Variant report

Variant	rs11809692
Chromosome Location	chr1:197722168-197722169
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	CBX3	chr1:197721815-197722235	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000224901	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11806604	0.95[AFR][1000 genomes]
rs41418447	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv437263	chr1:197599030-197722240	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv427908	chr1:197611569-197767362	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv947217	chr1:197716247-197729068	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197695800-197732800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:197695800-197742200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr1:197702800-197743800	Weak transcription	Esophagus	oesophagus
4	chr1:197706600-197729400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr1:197706800-197741800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:197708000-197722600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:197708400-197722800	Weak transcription	Lung	lung
8	chr1:197708400-197729800	Weak transcription	NHEK	skin
9	chr1:197709800-197723000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:197710400-197724000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr1:197710600-197722400	Weak transcription	Liver	Liver
12	chr1:197712200-197731000	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr1:197712200-197741600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:197712200-197742000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:197713000-197732800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:197713000-197734000	Weak transcription	Fetal Thymus	thymus
17	chr1:197713800-197733000	Weak transcription	Aorta	Aorta
18	chr1:197714400-197731600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:197714400-197743800	Weak transcription	Spleen	Spleen
20	chr1:197714600-197726400	Weak transcription	Right Ventricle	heart
21	chr1:197714600-197727400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:197714600-197729800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr1:197714600-197730000	Weak transcription	Primary B cells from cord blood	blood
24	chr1:197714600-197741600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr1:197714600-197742400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:197714600-197743600	Weak transcription	Ovary	ovary
27	chr1:197715000-197727200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:197715400-197740000	Weak transcription	Left Ventricle	heart
29	chr1:197715400-197741800	Weak transcription	Gastric	stomach
30	chr1:197715600-197738400	Weak transcription	Pancreas	Pancrea
31	chr1:197716800-197731400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:197716800-197737000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:197717000-197722400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr1:197717000-197723200	Weak transcription	Fetal Intestine Small	intestine
35	chr1:197717000-197730400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:197717000-197737200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:197717800-197727400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:197718400-197732000	Weak transcription	K562	blood
39	chr1:197718400-197740200	Weak transcription	NHDF-Ad	bronchial
40	chr1:197718600-197741800	Weak transcription	Osteobl	bone
41	chr1:197719200-197743800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:197720000-197731200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr1:197720200-197725000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr1:197720200-197730800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr1:197720200-197731400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:197720200-197740600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:197720400-197722400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:197720400-197726400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr1:197720400-197728800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:197720400-197730400	Weak transcription	Primary T cells from cord blood	blood

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