Variant report

Variant	rs2272374
Chromosome Location	chr7:127335258-127335259
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	chr7:127330743..127333126-chr7:127335213..127337613,2	MCF-7	breast:
2	chr7:127223661..127225753-chr7:127335198..127337426,2	K562	blood:

Variant related genes	Relation type
ENSG00000179562	Chromatin interaction
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10487494	1.00[JPT][hapmap]
rs10487496	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12536698	1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12706803	0.82[ASN][1000 genomes]
rs13227138	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13235029	0.82[ASN][1000 genomes]
rs13235596	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13244426	1.00[JPT][hapmap]
rs17660187	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17662800	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17663644	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17718364	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17730185	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17730294	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34121113	0.82[ASN][1000 genomes]
rs34188289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34195583	0.82[ASN][1000 genomes]
rs34250605	0.85[AFR][1000 genomes]
rs34599926	0.81[AFR][1000 genomes]
rs34814259	0.82[ASN][1000 genomes]
rs34844752	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34980225	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35120956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35144279	0.82[ASN][1000 genomes]
rs35246122	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35307919	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35421080	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs35521470	0.85[AFR][1000 genomes]
rs35585856	0.85[AFR][1000 genomes]
rs35640048	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35872516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36043097	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs36046498	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3752619	1.00[JPT][hapmap]
rs3757785	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808090	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes]
rs3808096	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3808111	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808115	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58341788	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs58451280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481384	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62481393	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6957054	0.82[ASN][1000 genomes]
rs737242	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs746238	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7788592	0.85[AFR][1000 genomes]
rs7808161	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7811506	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127309600-127339600	Weak transcription	Brain Germinal Matrix	brain
2	chr7:127324200-127338200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:127324400-127349000	Strong transcription	K562	blood
4	chr7:127324800-127338400	Weak transcription	Small Intestine	intestine
5	chr7:127324800-127344200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:127324800-127349400	Weak transcription	Stomach Mucosa	stomach
7	chr7:127324800-127350800	Weak transcription	Fetal Brain Female	brain
8	chr7:127324800-127372200	Weak transcription	Fetal Heart	heart
9	chr7:127325000-127346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:127325600-127347200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:127325600-127363000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr7:127325800-127350200	Strong transcription	HepG2	liver
13	chr7:127326000-127352200	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr7:127326000-127354400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:127326000-127355600	Strong transcription	Duodenum Mucosa	Duodenum
16	chr7:127326200-127338400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:127326200-127350600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:127326400-127336000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:127326400-127336000	Strong transcription	Fetal Muscle Leg	muscle
20	chr7:127326400-127347000	Strong transcription	Osteobl	bone
21	chr7:127326400-127347200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:127326400-127349200	Strong transcription	Dnd41	blood
23	chr7:127326400-127350200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr7:127326400-127350800	Strong transcription	Primary B cells from cord blood	blood
25	chr7:127326400-127350800	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr7:127326400-127351000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:127326400-127351800	Strong transcription	Placenta	Placenta
28	chr7:127326400-127352800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr7:127326400-127356600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:127326600-127342600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:127326600-127346400	Strong transcription	HSMM	muscle
32	chr7:127326600-127347200	Strong transcription	NH-A	brain
33	chr7:127326600-127351000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr7:127326600-127355200	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr7:127326600-127379800	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr7:127326800-127371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:127327000-127355200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:127328400-127338400	Weak transcription	Brain Anterior Caudate	brain
39	chr7:127329600-127336200	Strong transcription	NHDF-Ad	bronchial
40	chr7:127329600-127336400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr7:127330000-127336000	Strong transcription	NHEK	skin
42	chr7:127330000-127347000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:127330000-127355600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:127330600-127336200	Strong transcription	HMEC	breast
45	chr7:127330800-127338800	Weak transcription	Ovary	ovary
46	chr7:127331000-127338400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr7:127331000-127350600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:127331200-127337400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr7:127331600-127375600	Strong transcription	Fetal Thymus	thymus
50	chr7:127332400-127336000	Strong transcription	Thymus	Thymus

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