Variant report

Variant	rs2111933
Chromosome Location	chr1:197554698-197554699
allele	A/G
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	FOXA2	chr1:197554669-197555563	HepG2	liver:	n/a	chr1:197554791-197554803

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:197544507..197547050-chr1:197552662..197555146,2	K562	blood:

Variant related genes	Relation type
DENND1B	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10801618	0.87[AFR][1000 genomes]
rs1421392	1.00[AMR][1000 genomes]
rs2477064	1.00[AMR][1000 genomes]
rs2477068	1.00[AMR][1000 genomes]
rs2488408	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3861932	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4382756	1.00[AMR][1000 genomes]
rs4915553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6679357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692898	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7553626	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873074	chr1:197464448-197698103	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv873075	chr1:197464448-197714851	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv548872	chr1:197529218-197644581	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv873076	chr1:197529218-197689967	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	esv3397065	chr1:197545083-197637033	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197506800-197564600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:197508400-197602400	Weak transcription	Left Ventricle	heart
3	chr1:197526800-197563000	Weak transcription	Osteobl	bone
4	chr1:197537000-197574600	Weak transcription	NHDF-Ad	bronchial
5	chr1:197537400-197602200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:197537800-197585600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr1:197538600-197563600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:197539000-197556600	Weak transcription	Fetal Kidney	kidney
9	chr1:197541800-197566000	Weak transcription	Ovary	ovary
10	chr1:197541800-197602400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:197541800-197602600	Weak transcription	Fetal Thymus	thymus
12	chr1:197542000-197555800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:197542000-197557000	Weak transcription	Fetal Intestine Small	intestine
14	chr1:197542000-197559600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr1:197542000-197559800	Weak transcription	Liver	Liver
16	chr1:197542000-197568000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:197542000-197569200	Weak transcription	Pancreas	Pancrea
18	chr1:197542000-197571400	Weak transcription	Esophagus	oesophagus
19	chr1:197542000-197574400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:197542000-197609000	Weak transcription	Colonic Mucosa	Colon
21	chr1:197542000-197626400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:197542600-197563200	Weak transcription	Fetal Heart	heart
23	chr1:197544000-197562000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr1:197544400-197602400	Weak transcription	Primary B cells from cord blood	blood
25	chr1:197544600-197570000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:197545600-197567400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:197547000-197587200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:197547400-197602400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:197547600-197566200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:197548600-197569400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:197550600-197556800	Weak transcription	HMEC	breast
32	chr1:197550800-197555200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:197551400-197585600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr1:197551800-197559400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr1:197552600-197555600	Weak transcription	Fetal Lung	lung
36	chr1:197552600-197555600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:197552600-197559600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:197552600-197559800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:197552600-197563400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:197553000-197555800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:197553000-197583800	Weak transcription	Primary T cells from cord blood	blood
42	chr1:197553000-197585400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr1:197553000-197629800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:197553200-197555200	Weak transcription	Dnd41	blood
45	chr1:197553200-197558400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:197553200-197558800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:197553200-197564000	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr1:197554600-197555400	Enhancers	HepG2	liver

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