Variant report

Variant	rs11572916
Chromosome Location	chr12:124119388-124119389
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:34)
CpG islands
(count:0)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:34 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124119034-124119396	K562	blood:	n/a	n/a
2	POLR2A	chr12:124117806-124119812	HepG2	liver:	n/a	n/a
3	POLR2A	chr12:124118989-124119782	GM12892	blood:	n/a	n/a
4	POLR2A	chr12:124117702-124120166	PFSK-1	brain:	n/a	n/a
5	MXI1	chr12:124117527-124119605	IMR90	lung:	n/a	n/a
6	POLR2A	chr12:124119034-124119429	Hela-S3	cervix:	n/a	n/a
7	CREB1	chr12:124117708-124119446	GM12878	blood:	n/a	n/a
8	POLR2A	chr12:124117851-124119795	GM12878	blood:	n/a	n/a
9	SREBP2	chr12:124117417-124119412	GM12878	blood:	n/a	n/a
10	WRNIP1	chr12:124118026-124119703	GM12878	blood:	n/a	n/a
11	POLR2A	chr12:124118990-124119943	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:124117595-124119732	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr12:124117775-124119926	GM12878	blood:	n/a	n/a
14	PML	chr12:124117540-124119437	GM12878	blood:	n/a	n/a
15	POLR2A	chr12:124117744-124119687	K562	blood:	n/a	n/a
16	POLR2A	chr12:124119007-124119858	GM12891	blood:	n/a	n/a
17	MTA3	chr12:124117616-124119530	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:124117798-124119823	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr12:124117567-124119816	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr12:124119232-124119388	HUVEC	blood vessel:	n/a	n/a
21	HCFC1	chr12:124117557-124119744	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr12:124117751-124119836	GM12892	blood:	n/a	n/a
23	POLR2A	chr12:124118777-124119858	GM12892	blood:	n/a	n/a
24	POLR2A	chr12:124118927-124119768	K562	blood:	n/a	n/a
25	POLR2A	chr12:124117822-124119952	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr12:124117681-124120549	HepG2	liver:	n/a	n/a
27	MXI1	chr12:124117405-124119471	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr12:124117817-124119623	GM18505	blood:	n/a	n/a
29	HEY1	chr12:124117778-124119934	K562	blood:	n/a	chr12:124118165-124118180
30	POLR2A	chr12:124118984-124119817	GM12891	blood:	n/a	n/a
31	POLR2A	chr12:124117769-124119805	GM12878	blood:	n/a	n/a
32	POLR2A	chr12:124117923-124119814	K562	blood:	n/a	n/a
33	POLR2A	chr12:124118775-124119611	PANC-1	pancreas:	n/a	n/a
34	POLR2A	chr12:124117809-124119792	K562	blood:	n/a	n/a

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123716817..123718990-chr12:124117809..124119418,3	K562	blood:
2	chr12:124116825..124119400-chr12:124154444..124157055,3	MCF-7	breast:
3	chr12:123753772..123755288-chr12:124118042..124119686,2	MCF-7	breast:
4	chr12:124085449..124088387-chr12:124115552..124120028,6	MCF-7	breast:
5	chr12:123753793..123756876-chr12:124117523..124121813,4	K562	blood:
6	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
7	chr12:123847301..123849584-chr12:124117443..124120110,3	K562	blood:
8	chr12:124068831..124072178-chr12:124116882..124120107,5	K562	blood:
9	chr12:124067553..124070106-chr12:124116767..124119854,4	MCF-7	breast:
10	chr12:124105722..124107597-chr12:124119086..124122015,4	K562	blood:
11	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
12	chr12:123875063..123876805-chr12:124118427..124120711,2	K562	blood:
13	chr12:124118119..124120182-chr12:124196891..124198426,2	K562	blood:
14	chr12:123866683..123868660-chr12:124118535..124120956,2	K562	blood:
15	chr12:124084988..124092992-chr12:124114351..124121638,14	K562	blood:
16	chr12:124119318..124121767-chr12:124194183..124197056,2	MCF-7	breast:
17	chr1:183896810..183898310-chr12:124119036..124121731,2	K562	blood:
18	chr12:124115420..124119615-chr12:124195159..124199573,8	MCF-7	breast:
19	chr12:124085496..124088026-chr12:124116630..124119648,4	MCF-7	breast:
20	chr12:124117107..124120837-chr12:124123304..124127842,5	MCF-7	breast:
21	chr12:124116424..124121252-chr12:124194298..124198817,7	K562	blood:
22	chr12:124086664..124088557-chr12:124117448..124120033,4	K562	blood:
23	chr12:123847883..123849879-chr12:124118467..124120545,3	K562	blood:

No data

Variant related genes	Relation type
GTF2H3	TF binding region
EIF2B1	TF binding region
ENSG00000139697	Chromatin interaction
ENSG00000256092	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000111358	Chromatin interaction
ENSG00000051825	Chromatin interaction
ENSG00000185344	Chromatin interaction
ENSG00000168778	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000086598	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000183955	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1060638	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572914	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572919	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572928	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572929	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572931	1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11572961	1.00[ASN][1000 genomes]
rs11572965	1.00[ASN][1000 genomes]
rs11572970	1.00[ASN][1000 genomes]
rs11572992	1.00[ASN][1000 genomes]
rs11573002	1.00[ASN][1000 genomes]
rs11573003	1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs11573005	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11831129	1.00[ASN][1000 genomes]
rs1568031	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1913847	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28627432	1.00[ASN][1000 genomes]
rs28668364	1.00[ASN][1000 genomes]
rs28743126	1.00[ASN][1000 genomes]
rs35917561	1.00[ASN][1000 genomes]
rs4930715	1.00[ASN][1000 genomes]
rs56816130	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57071951	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[ASN][1000 genomes]
rs58831452	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58904890	1.00[ASN][1000 genomes]
rs59279556	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59827616	1.00[ASN][1000 genomes]
rs60422010	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60577371	1.00[ASN][1000 genomes]
rs61082817	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6488885	1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs6488889	1.00[MEX][hapmap];1.00[ASN][1000 genomes]
rs7134190	1.00[ASN][1000 genomes]
rs7316613	1.00[ASN][1000 genomes]
rs73414295	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416203	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416204	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416211	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416216	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416277	1.00[ASN][1000 genomes]
rs73416283	1.00[ASN][1000 genomes]
rs73416288	1.00[ASN][1000 genomes]
rs73416298	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416299	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73416301	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418103	1.00[ASN][1000 genomes]
rs73418104	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418114	1.00[ASN][1000 genomes]
rs73418125	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418139	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418148	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418153	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418159	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73418167	1.00[ASN][1000 genomes]
rs73418174	1.00[ASN][1000 genomes]
rs73418179	1.00[ASN][1000 genomes]
rs73418191	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]
rs7965466	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124117400-124119400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:124117400-124119600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr12:124117400-124119800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr12:124117600-124119400	Active TSS	Gastric	stomach
5	chr12:124117800-124119400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr12:124118400-124119400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr12:124118400-124119800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
8	chr12:124118600-124119400	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr12:124118600-124119400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:124118600-124119400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr12:124118600-124119400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr12:124118600-124119600	Flanking Active TSS	Brain Cingulate Gyrus	brain
13	chr12:124118600-124119800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:124118800-124119400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
15	chr12:124118800-124119400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr12:124118800-124119400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr12:124118800-124119400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:124118800-124119400	Flanking Active TSS	Brain Anterior Caudate	brain
19	chr12:124118800-124119400	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr12:124118800-124119400	Flanking Active TSS	Duodenum Mucosa	Duodenum
21	chr12:124118800-124119400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr12:124118800-124119400	Flanking Active TSS	Fetal Brain Male	brain
23	chr12:124118800-124119400	Flanking Active TSS	Fetal Brain Female	brain
24	chr12:124118800-124119400	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr12:124118800-124119400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
26	chr12:124118800-124119400	Active TSS	HepG2	liver
27	chr12:124118800-124119600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr12:124118800-124119600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:124118800-124119600	Flanking Active TSS	Colon Smooth Muscle	Colon
30	chr12:124118800-124119600	Flanking Active TSS	Rectal Smooth Muscle	rectum
31	chr12:124118800-124119600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr12:124118800-124119600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr12:124118800-124119600	Flanking Active TSS	Stomach Smooth Muscle	stomach
34	chr12:124118800-124119600	Flanking Active TSS	NHLF	lung
35	chr12:124118800-124119600	Flanking Active TSS	Osteobl	bone
36	chr12:124118800-124119800	Enhancers	Small Intestine	intestine
37	chr12:124118800-124119800	Enhancers	Spleen	Spleen
38	chr12:124119000-124119400	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:124119000-124119400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:124119000-124119400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr12:124119000-124119400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr12:124119000-124119400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr12:124119000-124119400	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:124119000-124119400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:124119000-124119400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:124119000-124119400	Flanking Active TSS	Colonic Mucosa	Colon
47	chr12:124119000-124119400	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr12:124119000-124119400	Flanking Active TSS	Fetal Kidney	kidney
49	chr12:124119000-124119400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr12:124119000-124119400	Flanking Active TSS	Fetal Lung	lung

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