Variant report

Variant	rs10198347
Chromosome Location	chr2:67487627-67487628
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr2:67486524-67488583	SK-N-SH	brain:	n/a	n/a
2	JUND	chr2:67486530-67488629	SK-N-SH	brain:	n/a	chr2:67486779-67486790 chr2:67488550-67488559
3	POLR2A	chr2:67486781-67489256	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr2:67486628-67487770	SK-N-SH_RA	brain:	n/a	chr2:67486858-67486872
5	MAFK	chr2:67486669-67488670	Hela-S3	cervix:	n/a	n/a
6	MAFK	chr2:67486659-67488612	IMR90	lung:	n/a	n/a
7	TCF12	chr2:67486498-67488668	SK-N-SH	brain:	n/a	n/a
8	EP300	chr2:67486172-67488638	SK-N-SH	brain:	n/a	chr2:67488548-67488562 chr2:67488582-67488596 chr2:67486858-67486872
9	EP300	chr2:67487597-67488647	ECC-1	luminal epithelium:	n/a	chr2:67488548-67488562 chr2:67488582-67488596
10	NFIC	chr2:67486447-67488598	SK-N-SH	brain:	n/a	chr2:67487785-67487813
11	FOSL2	chr2:67486542-67488574	SK-N-SH	brain:	n/a	chr2:67486779-67486790 chr2:67488550-67488559
12	TCF12	chr2:67486476-67488686	SK-N-SH	brain:	n/a	n/a
13	SMC3	chr2:67487588-67488469	Hela-S3	cervix:	n/a	n/a
14	MAX	chr2:67487592-67488496	SK-N-SH	brain:	n/a	n/a
15	FOXM1	chr2:67486470-67488539	SK-N-SH	brain:	n/a	n/a
16	GATA2	chr2:67486945-67487687	SH-SY5Y	brain:	n/a	n/a
17	GTF2F1	chr2:67486765-67488530	Hela-S3	cervix:	n/a	n/a
18	RXRA	chr2:67487583-67488600	SK-N-SH	brain:	n/a	n/a
19	STAT1	chr2:67486746-67487771	Hela-S3	cervix:	n/a	chr2:67487190-67487198
20	POLR2A	chr2:67487103-67488554	MCF10A-Er-Src	breast:	n/a	n/a
21	GATA3	chr2:67486384-67488781	SK-N-SH	brain:	n/a	chr2:67486673-67486681 chr2:67487762-67487778 chr2:67488605-67488615
22	PBX3	chr2:67486627-67488564	SK-N-SH	brain:	n/a	n/a
23	MAX	chr2:67486598-67488523	Hela-S3	cervix:	n/a	chr2:67487047-67487058
24	JUND	chr2:67486477-67488577	SK-N-SH	brain:	n/a	chr2:67486779-67486790 chr2:67488550-67488559
25	EP300	chr2:67486606-67488657	SK-N-SH	brain:	n/a	chr2:67488548-67488562 chr2:67488582-67488596 chr2:67486858-67486872
26	POLR2A	chr2:67484976-67489472	IMR90	lung:	n/a	n/a
27	RAD21	chr2:67486675-67488608	IMR90	lung:	n/a	n/a
28	EP300	chr2:67486648-67487694	SK-N-SH_RA	brain:	n/a	chr2:67486858-67486872
29	GATA3	chr2:67486439-67488641	SK-N-SH	brain:	n/a	chr2:67486673-67486681 chr2:67487762-67487778 chr2:67488605-67488615
30	PBX3	chr2:67486552-67488580	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67480791..67482295-chr2:67485695..67487822,2	K562	blood:

Variant related genes	Relation type
ENSG00000235885	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10196406	0.94[EUR][1000 genomes]
rs10196709	0.91[EUR][1000 genomes]
rs10199961	0.83[ASN][1000 genomes]
rs10469951	0.87[EUR][1000 genomes]
rs10865359	0.83[ASN][1000 genomes]
rs11896238	0.94[EUR][1000 genomes]
rs12052705	0.83[ASN][1000 genomes]
rs12053284	0.83[ASN][1000 genomes]
rs13385154	0.86[ASN][1000 genomes]
rs1384745	0.83[ASN][1000 genomes]
rs1466521	0.87[EUR][1000 genomes]
rs17033374	0.86[ASN][1000 genomes]
rs6719169	0.86[ASN][1000 genomes]
rs6745786	0.93[EUR][1000 genomes]
rs6746454	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1001672	chr2:67429146-67498042	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67482400-67488200	Enhancers	Hela-S3	cervix
2	chr2:67485400-67488800	Enhancers	Fetal Stomach	stomach
3	chr2:67486200-67487800	Flanking Active TSS	Fetal Lung	lung
4	chr2:67486200-67488200	Enhancers	HUVEC	blood vessel
5	chr2:67486200-67488200	Enhancers	NHLF	lung
6	chr2:67486200-67488400	Enhancers	Rectal Smooth Muscle	rectum
7	chr2:67486200-67488400	Enhancers	HMEC	breast
8	chr2:67486200-67488800	Enhancers	NHEK	skin
9	chr2:67486200-67489000	Enhancers	Colon Smooth Muscle	Colon
10	chr2:67486600-67487800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:67486800-67488200	Enhancers	HSMMtube	muscle
12	chr2:67486800-67488600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:67487000-67488000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:67487000-67488000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr2:67487000-67488000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:67487000-67488000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr2:67487000-67488000	Flanking Active TSS	NHDF-Ad	bronchial
18	chr2:67487000-67488400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:67487000-67488400	Enhancers	Fetal Muscle Leg	muscle
20	chr2:67487000-67488600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:67487200-67487800	Enhancers	Left Ventricle	heart
22	chr2:67487200-67488000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:67487200-67488600	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr2:67487200-67488600	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:67487400-67487800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:67487400-67487800	Enhancers	Placenta Amnion	Placenta Amnion
27	chr2:67487400-67487800	Enhancers	A549	lung
28	chr2:67487400-67487800	Enhancers	NH-A	brain
29	chr2:67487400-67488400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:67487400-67488600	Active TSS	Stomach Smooth Muscle	stomach
31	chr2:67487400-67488800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:67487400-67488800	Active TSS	Aorta	Aorta
33	chr2:67487400-67491400	Weak transcription	Psoas Muscle	Psoas
34	chr2:67487600-67487800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:67487600-67487800	Flanking Active TSS	HSMM	muscle
36	chr2:67487600-67487800	Flanking Active TSS	Osteobl	bone
37	chr2:67487600-67488000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:67487600-67488000	Weak transcription	Ovary	ovary

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