Variant report

Variant	rs2043950
Chromosome Location	chr2:174066730-174066731
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:174060729..174063071-chr2:174065159..174066981,2	K562	blood:
2	chr2:174064115..174068320-chr2:174070790..174075190,5	K562	blood:
3	chr2:174065896..174068842-chr2:174070151..174072535,2	MCF-7	breast:
4	chr2:174059743..174062229-chr2:174064774..174066981,2	K562	blood:
5	chr2:174066171..174068320-chr2:174072504..174075190,2	K562	blood:
6	chr2:174065533..174067512-chr2:174076722..174079013,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000238133	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11680555	0.82[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11687539	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17710065	0.83[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap];0.85[ASN][1000 genomes]
rs17710437	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1809139	0.83[CEU][hapmap];0.91[CHB][hapmap];0.83[JPT][hapmap]
rs2358088	0.97[ASN][1000 genomes]
rs3754739	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3754747	0.88[CEU][hapmap];0.91[CHB][hapmap];0.92[JPT][hapmap]
rs3769159	0.91[CHB][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3769162	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769163	0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769173	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3769201	0.82[CEU][hapmap]
rs3820835	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4399689	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4972529	0.89[CEU][hapmap];1.00[JPT][hapmap]
rs4972532	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56980119	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59500540	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61264428	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62175824	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6750801	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs6759847	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs722864	0.82[CHB][hapmap];0.83[ASN][1000 genomes]
rs734993	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs73974105	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs746179	0.88[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs7567355	0.82[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7575319	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7599340	0.94[CEU][hapmap]
rs7601536	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs935006	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs935007	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[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
rs2043950	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:174026000-174069000	Weak transcription	Primary B cells from cord blood	blood
2	chr2:174026600-174083200	Weak transcription	Esophagus	oesophagus
3	chr2:174046400-174075800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:174048600-174095200	Weak transcription	Thymus	Thymus
5	chr2:174049000-174070600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:174049200-174070200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
8	chr2:174049400-174078200	Weak transcription	HUVEC	blood vessel
9	chr2:174049600-174074400	Weak transcription	Fetal Stomach	stomach
10	chr2:174049600-174079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:174053400-174072000	Weak transcription	Right Atrium	heart
12	chr2:174053400-174075600	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:174053400-174078400	Weak transcription	Gastric	stomach
14	chr2:174053400-174082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
16	chr2:174057400-174075800	Weak transcription	Hela-S3	cervix
17	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
18	chr2:174059000-174075000	Weak transcription	NHLF	lung
19	chr2:174060000-174075200	Weak transcription	Fetal Kidney	kidney
20	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
21	chr2:174061000-174082000	Weak transcription	Fetal Brain Female	brain
22	chr2:174061200-174097600	Weak transcription	Lung	lung
23	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
24	chr2:174061600-174070200	Weak transcription	Brain Germinal Matrix	brain
25	chr2:174061600-174074600	Weak transcription	Fetal Intestine Small	intestine
26	chr2:174061600-174077000	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr2:174061600-174083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:174061600-174083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:174061800-174072600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:174061800-174075200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:174061800-174080200	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:174062000-174071600	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr2:174062600-174069400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:174063200-174074400	Weak transcription	Psoas Muscle	Psoas
35	chr2:174063600-174067400	Weak transcription	Ovary	ovary
36	chr2:174063600-174074400	Weak transcription	Left Ventricle	heart
37	chr2:174063600-174075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:174063600-174097600	Weak transcription	HSMM	muscle
39	chr2:174063800-174067800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr2:174063800-174068600	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:174063800-174069000	Weak transcription	Fetal Heart	heart
42	chr2:174063800-174069000	Weak transcription	NHEK	skin
43	chr2:174063800-174069800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:174063800-174070000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:174063800-174070200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:174063800-174070200	Weak transcription	Placenta	Placenta
47	chr2:174063800-174075000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:174063800-174075000	Weak transcription	NH-A	brain
49	chr2:174063800-174076200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:174063800-174081600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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