Variant report

Variant	rs4972532
Chromosome Location	chr2:174070578-174070579
allele	A/G
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: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11680555	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11687539	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17710065	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17710437	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1809139	0.82[ASN][1000 genomes]
rs2043950	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2358088	0.92[ASN][1000 genomes]
rs3754739	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769159	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3769162	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3769163	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3769173	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4399689	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56980119	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59500540	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61264428	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62175824	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734993	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73974105	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs746179	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7567355	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7575319	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601536	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs935006	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs935007	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[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
rs4972532	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 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	chr2:174049200-174083200	Weak transcription	Small Intestine	intestine
6	chr2:174049400-174078200	Weak transcription	HUVEC	blood vessel
7	chr2:174049600-174074400	Weak transcription	Fetal Stomach	stomach
8	chr2:174049600-174079800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:174053400-174072000	Weak transcription	Right Atrium	heart
10	chr2:174053400-174075600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:174053400-174078400	Weak transcription	Gastric	stomach
12	chr2:174053400-174082000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:174053400-174089800	Weak transcription	Pancreas	Pancrea
14	chr2:174057400-174075800	Weak transcription	Hela-S3	cervix
15	chr2:174058000-174112800	Weak transcription	Spleen	Spleen
16	chr2:174059000-174075000	Weak transcription	NHLF	lung
17	chr2:174060000-174075200	Weak transcription	Fetal Kidney	kidney
18	chr2:174060200-174092600	Weak transcription	Aorta	Aorta
19	chr2:174061000-174082000	Weak transcription	Fetal Brain Female	brain
20	chr2:174061200-174097600	Weak transcription	Lung	lung
21	chr2:174061400-174092200	Weak transcription	Brain Substantia Nigra	brain
22	chr2:174061600-174074600	Weak transcription	Fetal Intestine Small	intestine
23	chr2:174061600-174077000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:174061600-174083200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr2:174061600-174083200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:174061800-174072600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:174061800-174075200	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:174061800-174080200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:174062000-174071600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:174063200-174074400	Weak transcription	Psoas Muscle	Psoas
31	chr2:174063600-174074400	Weak transcription	Left Ventricle	heart
32	chr2:174063600-174075200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:174063600-174097600	Weak transcription	HSMM	muscle
34	chr2:174063800-174075000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:174063800-174075000	Weak transcription	NH-A	brain
36	chr2:174063800-174076200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:174063800-174081600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:174063800-174083200	Weak transcription	GM12878-XiMat	blood
39	chr2:174063800-174095000	Weak transcription	Right Ventricle	heart
40	chr2:174064000-174071000	Weak transcription	Fetal Thymus	thymus
41	chr2:174064200-174071000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:174064200-174074200	Weak transcription	K562	blood
43	chr2:174064200-174074600	Weak transcription	Liver	Liver
44	chr2:174064200-174074600	Weak transcription	Fetal Muscle Leg	muscle
45	chr2:174064200-174082800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:174064200-174083000	Weak transcription	HepG2	liver
47	chr2:174064200-174083400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:174064200-174097600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:174064600-174082000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:174064600-174083200	Weak transcription	Primary hematopoietic stem cells	blood

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