Variant report

Variant	rs7301031
Chromosome Location	chr12:124116808-124116809
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:124116676-124116852	HepG2	liver:	n/a	n/a
2	ZNF384	chr12:124116734-124117048	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:124085449..124088387-chr12:124115552..124120028,6	MCF-7	breast:
2	chr12:123755830..123757417-chr12:124116609..124118455,2	MCF-7	breast:
3	chr12:124067567..124070616-chr12:124116717..124118360,3	K562	blood:
4	chr12:124067553..124070106-chr12:124116767..124119854,4	MCF-7	breast:
5	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
6	chr12:124084988..124092992-chr12:124114351..124121638,14	K562	blood:
7	chr12:124115420..124119615-chr12:124195159..124199573,8	MCF-7	breast:
8	chr12:124085496..124088026-chr12:124116630..124119648,4	MCF-7	breast:
9	chr12:124116424..124121252-chr12:124194298..124198817,7	K562	blood:

No data

Variant related genes	Relation type
GTF2H3	TF binding region
ENSG00000086598	Chromatin interaction
ENSG00000178882	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000270095	Chromatin interaction
ENSG00000111364	Chromatin interaction
ENSG00000247373	Chromatin interaction
ENSG00000111328	Chromatin interaction
ENSG00000185344	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10846533	0.96[AFR][1000 genomes]
rs11057315	0.91[AFR][1000 genomes]
rs11057323	0.89[AFR][1000 genomes]
rs11572911	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11572928	0.92[EUR][1000 genomes]
rs11572929	0.92[EUR][1000 genomes]
rs11572931	0.92[EUR][1000 genomes]
rs11572938	0.92[EUR][1000 genomes]
rs11572939	0.95[AFR][1000 genomes]
rs11572945	0.96[AFR][1000 genomes]
rs11572946	0.95[AFR][1000 genomes]
rs11572956	0.92[EUR][1000 genomes]
rs11572962	0.92[EUR][1000 genomes]
rs11572992	0.92[EUR][1000 genomes]
rs11573002	0.92[EUR][1000 genomes]
rs11573005	0.92[EUR][1000 genomes]
rs11573006	0.92[EUR][1000 genomes]
rs11831129	1.00[EUR][1000 genomes]
rs12099985	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1568031	0.92[EUR][1000 genomes]
rs17881657	0.92[EUR][1000 genomes]
rs1913847	0.92[EUR][1000 genomes]
rs28627432	0.92[EUR][1000 genomes]
rs28743126	0.92[EUR][1000 genomes]
rs35917561	0.92[EUR][1000 genomes]
rs3850953	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4534668	0.92[EUR][1000 genomes]
rs56816130	0.92[EUR][1000 genomes]
rs58680194	0.92[EUR][1000 genomes]
rs59279556	0.92[EUR][1000 genomes]
rs60422010	0.92[EUR][1000 genomes]
rs60577371	0.92[EUR][1000 genomes]
rs61082817	0.92[EUR][1000 genomes]
rs6488882	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488885	1.00[EUR][1000 genomes]
rs6488886	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6488889	1.00[EUR][1000 genomes]
rs7134190	1.00[EUR][1000 genomes]
rs7295064	0.91[AFR][1000 genomes]
rs7305096	0.95[AFR][1000 genomes]
rs7306906	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73416265	0.92[EUR][1000 genomes]
rs73416269	0.92[EUR][1000 genomes]
rs73416277	0.92[EUR][1000 genomes]
rs73416283	1.00[EUR][1000 genomes]
rs73416298	0.92[EUR][1000 genomes]
rs73416299	0.92[EUR][1000 genomes]
rs73416301	0.92[EUR][1000 genomes]
rs73418103	0.92[EUR][1000 genomes]
rs73418104	0.92[EUR][1000 genomes]
rs73418107	0.92[EUR][1000 genomes]
rs73418114	0.92[EUR][1000 genomes]
rs73418125	0.92[EUR][1000 genomes]
rs73418139	0.92[EUR][1000 genomes]
rs73418153	0.92[EUR][1000 genomes]
rs73418167	0.92[EUR][1000 genomes]
rs73418179	0.92[EUR][1000 genomes]
rs7964934	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7965292	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7968699	1.00[EUR][1000 genomes]
rs7973187	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7973689	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7974138	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124088200-124117000	Strong transcription	Fetal Stomach	stomach
2	chr12:124088400-124117000	Strong transcription	Fetal Intestine Small	intestine
3	chr12:124088600-124117000	Strong transcription	Primary B cells from peripheral blood	blood
4	chr12:124089800-124117000	Strong transcription	Placenta	Placenta
5	chr12:124095000-124117600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:124096400-124117600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:124102400-124117600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:124106800-124117000	Strong transcription	Fetal Muscle Leg	muscle
9	chr12:124108400-124117000	Strong transcription	NHEK	skin
10	chr12:124111600-124117000	Weak transcription	Fetal Heart	heart
11	chr12:124112200-124117400	Weak transcription	Psoas Muscle	Psoas
12	chr12:124113600-124117600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:124113800-124117400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:124113800-124117400	Weak transcription	Small Intestine	intestine
15	chr12:124114000-124117800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:124114800-124117600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr12:124115000-124117000	Weak transcription	Primary hematopoietic stem cells	blood
18	chr12:124115000-124117400	Weak transcription	HUVEC	blood vessel
19	chr12:124115000-124117600	Weak transcription	Stomach Mucosa	stomach
20	chr12:124115400-124117400	Weak transcription	Right Ventricle	heart
21	chr12:124115400-124117600	Weak transcription	Esophagus	oesophagus
22	chr12:124115800-124117000	Weak transcription	Fetal Brain Male	brain
23	chr12:124115800-124117200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr12:124115800-124117400	Weak transcription	HSMM	muscle
25	chr12:124116000-124117000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:124116000-124117000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:124116000-124117000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:124116000-124117000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:124116000-124117000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr12:124116000-124117000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:124116000-124117000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:124116000-124117000	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr12:124116000-124117000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr12:124116000-124117000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:124116000-124117000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:124116000-124117000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:124116000-124117000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:124116000-124117000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:124116000-124117000	Weak transcription	HMEC	breast
40	chr12:124116000-124117000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr12:124116000-124117000	Weak transcription	NHDF-Ad	bronchial
42	chr12:124116000-124117200	Weak transcription	HepG2	liver
43	chr12:124116000-124117200	Weak transcription	Osteobl	bone
44	chr12:124116000-124117400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:124116000-124117400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:124116000-124117400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr12:124116000-124117400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr12:124116000-124117400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:124116000-124117400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr12:124116000-124117400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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