Variant report

Variant	rs1485953
Chromosome Location	chr4:147255838-147255839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147246661..147249612-chr4:147255793..147257750,2	MCF-7	breast:
2	chr4:147250783..147254830-chr4:147255041..147259510,7	MCF-7	breast:
3	chr4:147254547..147257377-chr4:147259136..147260909,2	K562	blood:
4	chr4:147162002..147168172-chr4:147253902..147262824,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251010	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10009867	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs10022940	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10050271	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10212747	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10519783	0.86[CEU][hapmap];0.82[AMR][1000 genomes]
rs11100922	1.00[CEU][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12374207	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12645587	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12711434	0.82[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13109522	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13116650	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13117626	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13140054	0.86[CEU][hapmap];0.87[AMR][1000 genomes]
rs13143634	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385847	0.82[CEU][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17828118	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1960018	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1991978	0.87[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2062436	0.95[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2062437	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2062438	1.00[CEU][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2163170	0.83[AMR][1000 genomes]
rs2357078	0.93[EUR][1000 genomes]
rs3849033	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3899576	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4103543	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4835291	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs6537411	0.87[CEU][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6537414	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6537417	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6813017	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs6828612	0.82[YRI][hapmap]
rs6844812	1.00[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6849067	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7661938	0.87[CEU][hapmap];0.82[AMR][1000 genomes]
rs7689364	1.00[CEU][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7693289	0.86[CEU][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs923166	1.00[CEU][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs962628	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9991483	0.95[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3451660	chr4:147225135-147271246	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3443192	chr4:147225234-147271217	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3468025	chr4:147225279-147271172	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3468026	chr4:147225279-147271172	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147212800-147264200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:147229600-147257400	Weak transcription	Ovary	ovary
3	chr4:147241800-147284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:147248800-147257200	Weak transcription	Fetal Intestine Large	intestine
5	chr4:147249800-147256000	Weak transcription	Lung	lung
6	chr4:147249800-147256400	Weak transcription	Left Ventricle	heart
7	chr4:147249800-147256600	Weak transcription	Esophagus	oesophagus
8	chr4:147252400-147256000	Weak transcription	Hela-S3	cervix
9	chr4:147252600-147256000	Weak transcription	Fetal Lung	lung
10	chr4:147252600-147256400	Weak transcription	HUVEC	blood vessel
11	chr4:147252800-147256400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr4:147254400-147256000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:147254400-147256000	Enhancers	A549	lung
14	chr4:147254400-147256800	Flanking Active TSS	GM12878-XiMat	blood
15	chr4:147254600-147258000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:147254800-147257600	Enhancers	Adipose Nuclei	Adipose
17	chr4:147255000-147256000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr4:147255000-147256000	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr4:147255000-147256800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr4:147255200-147256000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr4:147255200-147256000	Enhancers	HSMM	muscle
22	chr4:147255400-147256200	Enhancers	Dnd41	blood
23	chr4:147255400-147256200	Enhancers	NHDF-Ad	bronchial
24	chr4:147255400-147256200	Enhancers	Osteobl	bone
25	chr4:147255400-147256400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr4:147255400-147256600	Weak transcription	Stomach Mucosa	stomach
27	chr4:147255400-147256800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:147255400-147256800	Weak transcription	HepG2	liver
29	chr4:147255400-147257000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:147255400-147257000	Weak transcription	NH-A	brain
31	chr4:147255400-147257800	Enhancers	Small Intestine	intestine
32	chr4:147255400-147258000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr4:147255400-147258800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:147255400-147264400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr4:147255600-147256600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:147255600-147256800	Weak transcription	HMEC	breast
37	chr4:147255600-147257200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:147255600-147257200	Weak transcription	NHEK	skin
39	chr4:147255600-147257200	Weak transcription	NHLF	lung
40	chr4:147255800-147256200	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr4:147255800-147257200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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