Variant report

Variant	rs11573002
Chromosome Location	chr12:124144150-124144151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:124141910..124144216-chr12:124195360..124197441,2	MCF-7	breast:
2	chr12:124143980..124146532-chr12:124155769..124157495,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185344	Chromatin interaction

Extended variants
information (count: 119 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs1060638	1.00[ASN][1000 genomes]
rs11572911	0.92[EUR][1000 genomes]
rs11572914	1.00[ASN][1000 genomes]
rs11572916	1.00[ASN][1000 genomes]
rs11572919	1.00[ASN][1000 genomes]
rs11572921	1.00[ASN][1000 genomes]
rs11572928	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572929	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572931	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11572938	1.00[EUR][1000 genomes]
rs11572956	1.00[EUR][1000 genomes]
rs11572961	1.00[ASN][1000 genomes]
rs11572962	1.00[EUR][1000 genomes]
rs11572965	1.00[ASN][1000 genomes]
rs11572970	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572992	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573003	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11573005	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11573006	1.00[EUR][1000 genomes]
rs11831129	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12099985	0.92[EUR][1000 genomes]
rs1568031	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17881657	1.00[EUR][1000 genomes]
rs1913847	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28627432	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668364	1.00[ASN][1000 genomes]
rs28711796	0.84[EUR][1000 genomes]
rs28743126	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35917561	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850953	0.92[EUR][1000 genomes]
rs4534668	1.00[EUR][1000 genomes]
rs4930715	1.00[ASN][1000 genomes]
rs56816130	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57071951	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58028686	1.00[ASN][1000 genomes]
rs58507743	1.00[ASN][1000 genomes]
rs58680194	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58831452	1.00[ASN][1000 genomes]
rs58904890	1.00[ASN][1000 genomes]
rs59279556	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59827616	1.00[ASN][1000 genomes]
rs60422010	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60577371	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61082817	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488882	0.92[EUR][1000 genomes]
rs6488885	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488886	0.92[EUR][1000 genomes]
rs6488889	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134190	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7301031	0.92[EUR][1000 genomes]
rs7306906	0.92[EUR][1000 genomes]
rs7316613	1.00[ASN][1000 genomes]
rs73414295	1.00[ASN][1000 genomes]
rs73416203	1.00[ASN][1000 genomes]
rs73416204	1.00[ASN][1000 genomes]
rs73416211	1.00[ASN][1000 genomes]
rs73416216	1.00[ASN][1000 genomes]
rs73416265	1.00[EUR][1000 genomes]
rs73416269	1.00[EUR][1000 genomes]
rs73416277	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416283	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416288	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416298	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416299	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73416301	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73418103	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73418104	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73418107	1.00[EUR][1000 genomes]
rs73418114	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73418125	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73418139	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73418148	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73418153	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73418159	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418167	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73418174	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418179	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73418191	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73420303	1.00[ASN][1000 genomes]
rs73420351	1.00[ASN][1000 genomes]
rs73420355	1.00[ASN][1000 genomes]
rs73420358	1.00[ASN][1000 genomes]
rs73420368	1.00[ASN][1000 genomes]
rs7964934	0.92[EUR][1000 genomes]
rs7965292	0.92[EUR][1000 genomes]
rs7965466	1.00[ASN][1000 genomes]
rs7968699	0.92[EUR][1000 genomes]
rs7973187	0.92[EUR][1000 genomes]
rs7973689	0.92[EUR][1000 genomes]
rs7974138	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050598	chr12:123991646-124214332	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv541623	chr12:123991646-124214332	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1042181	chr12:124037400-124152950	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1040356	chr12:124094758-124172731	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	22 gene(s)	inside rSNPs	diseases
6	esv2757517	chr12:124110122-124195856	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	esv2759918	chr12:124110122-124195856	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1041918	chr12:124115035-124184855	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
9	nsv1042866	chr12:124115035-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv442292	chr12:124115047-124195854	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	esv35148	chr12:124119120-124196120	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
12	esv2756516	chr12:124119120-124196120	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
13	nsv1053101	chr12:124119155-124172731	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
14	nsv524660	chr12:124119983-124194438	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv455733	chr12:124119983-124195856	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
16	nsv560496	chr12:124119983-124195856	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
17	nsv1040119	chr12:124122376-124152950	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv1036843	chr12:124122376-124169697	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv1052065	chr12:124127003-124157939	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	nsv1051385	chr12:124127003-124160021	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	nsv1053923	chr12:124127003-124162750	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
22	nsv1037556	chr12:124127003-124166978	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
23	nsv1043738	chr12:124127003-124169697	Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	nsv1046151	chr12:124127003-124172731	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
25	nsv1045476	chr12:124127003-124174020	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
26	nsv1055052	chr12:124127003-124176120	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
27	nsv1044734	chr12:124127003-124179417	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
28	nsv560497	chr12:124129460-124195856	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
29	nsv560498	chr12:124129924-124195856	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124119200-124155200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:124119800-124146200	Weak transcription	Psoas Muscle	Psoas
3	chr12:124119800-124155200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:124124000-124145600	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:124124000-124146400	Strong transcription	Fetal Thymus	thymus
6	chr12:124124000-124148200	Strong transcription	Primary T cells from cord blood	blood
7	chr12:124125000-124146600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:124125600-124146800	Weak transcription	Small Intestine	intestine
9	chr12:124126200-124148200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:124126800-124145800	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:124126800-124148000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:124127000-124145800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr12:124129200-124147800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:124129600-124145200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:124129600-124146400	Strong transcription	Dnd41	blood
16	chr12:124131000-124155400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:124131200-124151600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:124131200-124155200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:124131400-124155200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr12:124131400-124155200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:124131400-124155600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:124131400-124155600	Weak transcription	Right Ventricle	heart
23	chr12:124132200-124145800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:124133000-124155200	Weak transcription	Stomach Mucosa	stomach
25	chr12:124133600-124145200	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:124135000-124144200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:124135800-124147800	Weak transcription	Fetal Lung	lung
28	chr12:124137400-124155400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:124137600-124144400	Strong transcription	A549	lung
30	chr12:124138600-124148000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:124139200-124145200	Strong transcription	Fetal Intestine Large	intestine
32	chr12:124139200-124148800	Strong transcription	Fetal Muscle Leg	muscle
33	chr12:124139400-124145200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr12:124139400-124145600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:124139600-124155400	Weak transcription	Fetal Kidney	kidney
36	chr12:124140000-124145200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr12:124141000-124144200	Strong transcription	Fetal Intestine Small	intestine
38	chr12:124141000-124144400	Strong transcription	Fetal Stomach	stomach
39	chr12:124141000-124145600	Strong transcription	Fetal Brain Female	brain
40	chr12:124141000-124155200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:124141200-124145200	Weak transcription	Hela-S3	cervix
42	chr12:124141400-124144200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr12:124141400-124144400	Weak transcription	K562	blood
44	chr12:124141400-124145000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr12:124141400-124155200	Weak transcription	Fetal Brain Male	brain
46	chr12:124141400-124155400	Weak transcription	Colonic Mucosa	Colon
47	chr12:124141600-124144200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:124141600-124148000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:124141600-124155200	Weak transcription	Ovary	ovary
50	chr12:124141600-124155400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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