Variant report

Variant	rs7604338
Chromosome Location	chr2:173998643-173998644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173997780..173999640-chr2:174139460..174141326,2	K562	blood:
2	chr2:173938732..173942486-chr2:173997338..174001096,5	K562	blood:
3	chr2:173996961..173999501-chr2:174001497..174003387,2	K562	blood:

Variant related genes	Relation type
ENSG00000091436	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10211033	0.82[ASN][1000 genomes]
rs10930577	0.91[ASN][1000 genomes]
rs10930578	0.91[ASN][1000 genomes]
rs11679192	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11885351	0.91[ASN][1000 genomes]
rs13407319	0.82[ASN][1000 genomes]
rs1545516	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17760899	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2034647	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2044515	0.83[ASN][1000 genomes]
rs35464261	0.91[ASN][1000 genomes]
rs3754745	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769207	0.83[ASN][1000 genomes]
rs4972530	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6727541	0.89[ASN][1000 genomes]
rs6735275	0.91[ASN][1000 genomes]
rs6758859	0.87[ASN][1000 genomes]
rs9636294	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv834461	chr2:173979734-174038471	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7604338	ZAK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173974400-174005200	Weak transcription	Fetal Intestine Small	intestine
2	chr2:173981000-174000800	Weak transcription	Fetal Thymus	thymus
3	chr2:173982800-174006400	Weak transcription	Fetal Lung	lung
4	chr2:173984200-174000200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:173988000-173999200	Weak transcription	Dnd41	blood
6	chr2:173988200-174004600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:173989200-174006000	Weak transcription	Primary B cells from cord blood	blood
8	chr2:173989600-174003800	Weak transcription	Right Ventricle	heart
9	chr2:173989600-174007600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:173991800-173999600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:173991800-174000800	Weak transcription	NH-A	brain
12	chr2:173991800-174005200	Weak transcription	K562	blood
13	chr2:173992000-173999400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:173992000-173999400	Weak transcription	Osteobl	bone
15	chr2:173992000-174000800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:173992200-173999200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:173993200-173999400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr2:173995200-174000600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:173995800-173999400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:173995800-174000800	Weak transcription	A549	lung
21	chr2:173996000-173999400	Enhancers	NHEK	skin
22	chr2:173996000-174001000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:173996000-174001400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:173996200-173999400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:173996200-174000600	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr2:173996400-174000800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:173996600-173999400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:173996600-174001200	Weak transcription	Brain Germinal Matrix	brain
29	chr2:173996600-174012800	Weak transcription	Ovary	ovary
30	chr2:173996600-174013400	Weak transcription	Aorta	Aorta
31	chr2:173996800-174001000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:173997200-174000200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:173997400-173999200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:173997400-173999200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr2:173997400-173999200	Weak transcription	Left Ventricle	heart
36	chr2:173997400-173999600	Weak transcription	Colon Smooth Muscle	Colon
37	chr2:173997400-174000800	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr2:173997400-174000800	Weak transcription	Psoas Muscle	Psoas
39	chr2:173997400-174000800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr2:173997400-174001000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:173997400-174001200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:173997400-174001200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:173997400-174001200	Weak transcription	Fetal Brain Male	brain
44	chr2:173997400-174003400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:173997600-173999200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr2:173997600-173999400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:173997600-173999600	Weak transcription	NHLF	lung
48	chr2:173997600-174000800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:173997600-174001600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:173997800-173999200	Enhancers	Primary neutrophils fromperipheralblood	blood

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