Variant report

Variant	rs3769159
Chromosome Location	chr2:174070111-174070112
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	chr2:174063090..174066387-chr2:174067458..174070599,4	K562	blood:
2	chr2:174059671..174062548-chr2:174067092..174070857,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10497402	0.81[CHB][hapmap];1.00[CHD][hapmap]
rs11680555	0.82[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11687539	0.88[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11690597	0.81[CHB][hapmap]
rs16861363	0.81[CHB][hapmap];0.94[CHD][hapmap];0.80[TSI][hapmap]
rs17710065	0.82[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17710437	0.87[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1809139	0.82[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs2043950	0.91[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2358088	0.94[ASN][1000 genomes]
rs3754739	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3754747	0.88[CEU][hapmap];0.81[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.80[TSI][hapmap]
rs3769162	1.00[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769163	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769173	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3769201	0.94[CEU][hapmap]
rs3820835	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs4399689	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4972529	0.81[CHB][hapmap];0.92[JPT][hapmap]
rs4972532	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56980119	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59500540	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61264428	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62175824	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6759847	0.89[CEU][hapmap];0.81[CHB][hapmap];0.92[JPT][hapmap]
rs722864	0.82[CEU][hapmap]
rs734993	0.87[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73974105	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746179	0.88[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.90[YRI][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7567355	0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7575319	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7599340	0.82[CEU][hapmap];0.82[TSI][hapmap]
rs7601536	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935006	0.81[CEU][hapmap];0.91[CHB][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs935007	0.91[CHB][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.92[JPT][hapmap];0.90[TSI][hapmap];0.81[EUR][1000 genomes];0.89[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3769159	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:89 , 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	chr2:174049000-174070600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:174049200-174070200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
7	chr2:174049400-174078200	Weak transcription	HUVEC	blood vessel
8	chr2:174049600-174074400	Weak transcription	Fetal Stomach	stomach
9	chr2:174049600-174079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:174053400-174072000	Weak transcription	Right Atrium	heart
11	chr2:174053400-174075600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:174053400-174078400	Weak transcription	Gastric	stomach
13	chr2:174053400-174082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
15	chr2:174057400-174075800	Weak transcription	Hela-S3	cervix
16	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
17	chr2:174059000-174075000	Weak transcription	NHLF	lung
18	chr2:174060000-174075200	Weak transcription	Fetal Kidney	kidney
19	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
20	chr2:174061000-174082000	Weak transcription	Fetal Brain Female	brain
21	chr2:174061200-174097600	Weak transcription	Lung	lung
22	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
23	chr2:174061600-174070200	Weak transcription	Brain Germinal Matrix	brain
24	chr2:174061600-174074600	Weak transcription	Fetal Intestine Small	intestine
25	chr2:174061600-174077000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:174061600-174083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:174061600-174083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:174061800-174072600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:174061800-174075200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:174061800-174080200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr2:174062000-174071600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:174063200-174074400	Weak transcription	Psoas Muscle	Psoas
33	chr2:174063600-174074400	Weak transcription	Left Ventricle	heart
34	chr2:174063600-174075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:174063600-174097600	Weak transcription	HSMM	muscle
36	chr2:174063800-174070200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:174063800-174070200	Weak transcription	Placenta	Placenta
38	chr2:174063800-174075000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:174063800-174075000	Weak transcription	NH-A	brain
40	chr2:174063800-174076200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:174063800-174081600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:174063800-174083200	Weak transcription	GM12878-XiMat	blood
43	chr2:174063800-174095000	Weak transcription	Right Ventricle	heart
44	chr2:174064000-174071000	Weak transcription	Fetal Thymus	thymus
45	chr2:174064200-174071000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:174064200-174074200	Weak transcription	K562	blood
47	chr2:174064200-174074600	Weak transcription	Liver	Liver
48	chr2:174064200-174074600	Weak transcription	Fetal Muscle Leg	muscle
49	chr2:174064200-174082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:174064200-174083000	Weak transcription	HepG2	liver

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