Variant report

Variant	rs4894953
Chromosome Location	chr3:105520184-105520185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10804442	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10933833	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11711088	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12636287	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13060223	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13085563	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13100446	0.94[AMR][1000 genomes]
rs1443102	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1470283	0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1867195	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1992522	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2055557	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2099892	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2399056	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28427229	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28533328	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3996189	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4243427	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4447799	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4894950	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894954	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4894957	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4894960	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4894962	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6437624	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6788366	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6795961	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6807382	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71627856	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7432372	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7637327	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7645021	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7647955	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7651784	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs769315	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs971110	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9841500	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

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:87 , 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	chr3:105511800-105520400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:105512000-105520600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr3:105512200-105520200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:105512200-105520400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:105512200-105527200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr3:105512200-105534200	Weak transcription	Left Ventricle	heart
14	chr3:105512400-105524400	Weak transcription	NHLF	lung
15	chr3:105512600-105520400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:105512600-105524000	Weak transcription	HSMMtube	muscle
17	chr3:105512600-105524600	Weak transcription	Colon Smooth Muscle	Colon
18	chr3:105512600-105525200	Weak transcription	HSMM	muscle
19	chr3:105514400-105521600	Enhancers	Primary B cells from peripheral blood	blood
20	chr3:105515400-105528200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr3:105515400-105539000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr3:105515800-105521600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr3:105516000-105521600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr3:105516000-105521600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr3:105516200-105522200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr3:105516400-105521000	Enhancers	Primary T cells from cord blood	blood
27	chr3:105516400-105521800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr3:105516600-105522000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:105516600-105523000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr3:105517800-105520400	Weak transcription	Brain Hippocampus Middle	brain
31	chr3:105517800-105520800	Weak transcription	Fetal Muscle Leg	muscle
32	chr3:105517800-105521000	Weak transcription	NH-A	brain
33	chr3:105517800-105522000	Enhancers	Primary B cells from cord blood	blood
34	chr3:105517800-105522200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:105517800-105524800	Weak transcription	A549	lung
36	chr3:105517800-105525400	Weak transcription	Fetal Intestine Large	intestine
37	chr3:105517800-105527800	Weak transcription	Fetal Kidney	kidney
38	chr3:105517800-105528200	Weak transcription	Brain Substantia Nigra	brain
39	chr3:105517800-105528400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr3:105518000-105521200	Weak transcription	Brain Angular Gyrus	brain
41	chr3:105518200-105521000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:105518200-105521400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:105518400-105520400	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr3:105518400-105520400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr3:105518400-105520400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:105518400-105520400	Weak transcription	Right Ventricle	heart
47	chr3:105518400-105520600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr3:105518400-105520600	Weak transcription	Fetal Lung	lung
49	chr3:105518400-105521000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:105518400-105521200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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