Variant report

Variant	rs4972533
Chromosome Location	chr2:174070885-174070886
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173939894..173941691-chr2:174070697..174073381,2	K562	blood:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

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

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

rs_ID	r²[population]
rs10930579	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11686011	0.82[ASW][hapmap]
rs12615166	0.80[ASN][1000 genomes]
rs12986917	0.82[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap]
rs12987496	1.00[CHB][hapmap]
rs12989116	1.00[CHB][hapmap]
rs12990553	0.93[ASN][1000 genomes]
rs12997078	0.80[ASN][1000 genomes]
rs12998711	0.81[ASN][1000 genomes]
rs13008554	0.87[ASN][1000 genomes]
rs13017438	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13022800	0.90[CHB][hapmap]
rs13029949	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs13032010	0.84[CEU][hapmap];1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs16861278	0.89[CHB][hapmap]
rs17302977	0.82[ASW][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap]
rs17761169	0.83[CEU][hapmap];0.82[CHB][hapmap];0.82[ASN][1000 genomes]
rs2076857	0.90[ASN][1000 genomes]
rs2278883	0.82[CHB][hapmap]
rs2289397	0.96[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2289399	0.82[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34658268	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs36103648	0.82[ASN][1000 genomes]
rs3754741	0.82[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3754743	0.82[ASW][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs3754744	0.82[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs3769157	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769161	0.88[CHB][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs3769167	1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769187	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs3769192	1.00[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.81[ASN][1000 genomes]
rs3769194	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs3769203	0.90[CHB][hapmap]
rs55913048	0.95[ASN][1000 genomes]
rs56151459	0.91[ASN][1000 genomes]
rs6433395	0.90[CHB][hapmap]
rs71417423	0.81[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	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
2	chr2:174046400-174075800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
4	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
5	chr2:174049400-174078200	Weak transcription	HUVEC	blood vessel
6	chr2:174049600-174074400	Weak transcription	Fetal Stomach	stomach
7	chr2:174049600-174079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:174053400-174072000	Weak transcription	Right Atrium	heart
9	chr2:174053400-174075600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:174053400-174078400	Weak transcription	Gastric	stomach
11	chr2:174053400-174082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
13	chr2:174057400-174075800	Weak transcription	Hela-S3	cervix
14	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
15	chr2:174059000-174075000	Weak transcription	NHLF	lung
16	chr2:174060000-174075200	Weak transcription	Fetal Kidney	kidney
17	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
18	chr2:174061000-174082000	Weak transcription	Fetal Brain Female	brain
19	chr2:174061200-174097600	Weak transcription	Lung	lung
20	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
21	chr2:174061600-174074600	Weak transcription	Fetal Intestine Small	intestine
22	chr2:174061600-174077000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:174061600-174083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:174061600-174083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:174061800-174072600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:174061800-174075200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:174061800-174080200	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr2:174062000-174071600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:174063200-174074400	Weak transcription	Psoas Muscle	Psoas
30	chr2:174063600-174074400	Weak transcription	Left Ventricle	heart
31	chr2:174063600-174075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:174063600-174097600	Weak transcription	HSMM	muscle
33	chr2:174063800-174075000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:174063800-174075000	Weak transcription	NH-A	brain
35	chr2:174063800-174076200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr2:174063800-174081600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:174063800-174083200	Weak transcription	GM12878-XiMat	blood
38	chr2:174063800-174095000	Weak transcription	Right Ventricle	heart
39	chr2:174064000-174071000	Weak transcription	Fetal Thymus	thymus
40	chr2:174064200-174071000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:174064200-174074200	Weak transcription	K562	blood
42	chr2:174064200-174074600	Weak transcription	Liver	Liver
43	chr2:174064200-174074600	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:174064200-174082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr2:174064200-174083000	Weak transcription	HepG2	liver
46	chr2:174064200-174083400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:174064200-174097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr2:174064600-174082000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:174064600-174083200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:174066600-174071600	Enhancers	Colon Smooth Muscle	Colon

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