Variant report

Variant	rs7594419
Chromosome Location	chr2:40345240-40345241
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	chr2:40340588..40343446-chr2:40344341..40345880,2	K562	blood:

Variant related genes	Relation type
ENSG00000227028	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10175778	0.85[CEU][hapmap]
rs10176352	0.86[CEU][hapmap]
rs10183585	0.84[CEU][hapmap]
rs10195992	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202413	0.86[CEU][hapmap]
rs10207018	0.85[CEU][hapmap]
rs10490207	0.85[CEU][hapmap]
rs11884718	0.86[CEU][hapmap]
rs11884732	0.86[CEU][hapmap]
rs11887546	0.86[CEU][hapmap]
rs11887643	0.86[CEU][hapmap]
rs11889015	0.84[CEU][hapmap]
rs11891921	0.85[CEU][hapmap]
rs13428581	0.85[CEU][hapmap]
rs17025157	1.00[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025163	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025179	1.00[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025234	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17025260	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17025271	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs17025453	0.86[CEU][hapmap]
rs17025628	0.86[CEU][hapmap]
rs17038992	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs2033230	0.85[CEU][hapmap]
rs2041827	0.85[CEU][hapmap]
rs5554	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704907	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6760003	0.86[CEU][hapmap]
rs73927124	0.82[EUR][1000 genomes]
rs741320	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs7563445	0.86[CEU][hapmap]
rs7576587	0.85[CEU][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589395	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594504	0.93[CEU][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601672	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs918049	1.00[CEU][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833892	chr2:40188785-40363480	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873903	chr2:40285145-40382712	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv873905	chr2:40341847-40364895	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv873906	chr2:40341847-40385045	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40321200-40354600	Weak transcription	Right Ventricle	heart
2	chr2:40322800-40350200	Weak transcription	Fetal Brain Male	brain
3	chr2:40328000-40365600	Weak transcription	Brain Germinal Matrix	brain
4	chr2:40331200-40350200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr2:40331200-40351200	Weak transcription	Fetal Stomach	stomach
6	chr2:40333000-40351000	Weak transcription	Aorta	Aorta
7	chr2:40333400-40354400	Weak transcription	NH-A	brain
8	chr2:40334600-40354800	Weak transcription	Fetal Brain Female	brain
9	chr2:40336600-40345600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:40339000-40345800	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:40340200-40345600	Weak transcription	Small Intestine	intestine
12	chr2:40340600-40351000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:40340800-40350000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:40341200-40345600	Weak transcription	Lung	lung
15	chr2:40341600-40350200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:40341600-40357000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:40341800-40350800	Weak transcription	Right Atrium	heart
18	chr2:40342400-40349800	Weak transcription	Osteobl	bone
19	chr2:40342800-40357600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr2:40343000-40349600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:40343000-40350200	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:40343000-40351000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:40343000-40354800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr2:40343200-40345600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr2:40343200-40345800	Weak transcription	Left Ventricle	heart
26	chr2:40343400-40350600	Weak transcription	Dnd41	blood
27	chr2:40345000-40345400	Enhancers	Fetal Heart	heart
28	chr2:40345000-40345800	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr2:40345000-40350400	Weak transcription	HSMM	muscle
30	chr2:40345200-40346600	Enhancers	Fetal Thymus	thymus
31	chr2:40345200-40350200	Weak transcription	Primary monocytes fromperipheralblood	blood

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