Variant report

Variant	rs769317
Chromosome Location	chr3:105521054-105521055
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1025885	0.83[AFR][1000 genomes]
rs1025886	0.89[YRI][hapmap]
rs10933831	0.89[YRI][hapmap];0.95[AFR][1000 genomes]
rs10933832	0.83[AFR][1000 genomes]
rs12635805	0.83[AFR][1000 genomes]
rs1561920	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs2083759	0.98[AFR][1000 genomes]
rs2120102	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs3213928	1.00[CEU][hapmap]
rs4894838	0.98[AFR][1000 genomes]
rs6437617	0.88[YRI][hapmap]
rs6437619	1.00[YRI][hapmap]
rs6805675	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs9288820	0.89[YRI][hapmap]
rs981479	0.89[YRI][hapmap]
rs9866153	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877309	chr3:105373836-105542435	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105483200-105555200	Weak transcription	Placenta	Placenta
2	chr3:105489600-105525400	Weak transcription	Fetal Intestine Small	intestine
3	chr3:105505000-105527800	Weak transcription	Pancreas	Pancrea
4	chr3:105505000-105548200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:105509800-105527800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:105510600-105521200	Weak transcription	Fetal Brain Male	brain
7	chr3:105511400-105566400	Weak transcription	Aorta	Aorta
8	chr3:105512200-105527200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr3:105512200-105534200	Weak transcription	Left Ventricle	heart
10	chr3:105512400-105524400	Weak transcription	NHLF	lung
11	chr3:105512600-105524000	Weak transcription	HSMMtube	muscle
12	chr3:105512600-105524600	Weak transcription	Colon Smooth Muscle	Colon
13	chr3:105512600-105525200	Weak transcription	HSMM	muscle
14	chr3:105514400-105521600	Enhancers	Primary B cells from peripheral blood	blood
15	chr3:105515400-105528200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:105515400-105539000	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:105515800-105521600	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr3:105516000-105521600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr3:105516000-105521600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr3:105516200-105522200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:105516400-105521800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr3:105516600-105522000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr3:105516600-105523000	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr3:105517800-105522000	Enhancers	Primary B cells from cord blood	blood
25	chr3:105517800-105522200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:105517800-105524800	Weak transcription	A549	lung
27	chr3:105517800-105525400	Weak transcription	Fetal Intestine Large	intestine
28	chr3:105517800-105527800	Weak transcription	Fetal Kidney	kidney
29	chr3:105517800-105528200	Weak transcription	Brain Substantia Nigra	brain
30	chr3:105517800-105528400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:105518000-105521200	Weak transcription	Brain Angular Gyrus	brain
32	chr3:105518200-105521400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr3:105518400-105521200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:105518400-105522000	Weak transcription	Brain Germinal Matrix	brain
35	chr3:105518400-105524200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr3:105518400-105525600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr3:105518400-105525800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:105518800-105524200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:105519200-105521200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr3:105519200-105521400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr3:105519200-105522200	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr3:105519200-105541600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:105519400-105521600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:105519400-105521600	Enhancers	NHEK	skin
45	chr3:105519400-105524800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr3:105519400-105527800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr3:105519800-105522200	Enhancers	Fetal Heart	heart
48	chr3:105520200-105521200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr3:105520200-105521400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:105520200-105522400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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