Variant report

Variant	rs7528626
Chromosome Location	chr1:184770289-184770290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184768079..184770676-chr1:184941944..184943904,2	K562	blood:
2	chr1:184723728..184725822-chr1:184769277..184771159,2	MCF-7	breast:
3	chr1:184767035..184769263-chr1:184769371..184770880,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116406	Chromatin interaction
ENSG00000135842	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1465106	0.83[EUR][1000 genomes]
rs16823461	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs180046	0.89[CEU][hapmap]
rs234110	0.89[CEU][hapmap]
rs234634	0.89[CEU][hapmap]
rs234635	0.89[CEU][hapmap]
rs234651	1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs234652	1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs234653	1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes]
rs234654	1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs234655	0.81[EUR][1000 genomes]
rs234656	1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap];0.81[EUR][1000 genomes]
rs234664	0.81[EUR][1000 genomes]
rs234680	0.89[CEU][hapmap]
rs234682	0.89[CEU][hapmap]
rs234683	0.89[CEU][hapmap]
rs28927681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs35545276	0.88[EUR][1000 genomes]
rs35704242	0.88[EUR][1000 genomes]
rs3737953	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs3737954	0.80[ASN][1000 genomes]
rs3845472	0.83[EUR][1000 genomes]
rs41321748	1.00[CEU][hapmap];0.88[GIH][hapmap];0.91[TSI][hapmap]
rs55637494	0.83[EUR][1000 genomes]
rs55710473	0.83[EUR][1000 genomes]
rs55757920	0.83[EUR][1000 genomes]
rs56076998	0.88[EUR][1000 genomes]
rs56278505	0.88[EUR][1000 genomes]
rs56374790	0.88[EUR][1000 genomes]
rs569243	1.00[CEU][hapmap]
rs603160	1.00[CEU][hapmap]
rs639593	1.00[CEU][hapmap];0.88[GIH][hapmap];0.83[TSI][hapmap]
rs642027	1.00[CEU][hapmap]
rs7528487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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 target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184756800-184794000	Weak transcription	Thymus	Thymus
2	chr1:184762000-184781600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:184762000-184787800	Weak transcription	Spleen	Spleen
4	chr1:184762200-184770600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:184762200-184771800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:184762200-184775000	Weak transcription	Primary B cells from cord blood	blood
7	chr1:184762200-184775800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:184762400-184770400	Weak transcription	Adipose Nuclei	Adipose
9	chr1:184762400-184774800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:184762400-184775800	Weak transcription	Fetal Intestine Small	intestine
11	chr1:184762400-184789400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:184762600-184771600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:184762600-184792800	Weak transcription	Colonic Mucosa	Colon
14	chr1:184762800-184770400	Weak transcription	NHLF	lung
15	chr1:184762800-184772000	Weak transcription	HMEC	breast
16	chr1:184762800-184772200	Weak transcription	NHEK	skin
17	chr1:184763000-184782800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:184763200-184772000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:184763200-184774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr1:184763800-184781200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr1:184764800-184779000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:184765200-184775000	Weak transcription	Esophagus	oesophagus
23	chr1:184765800-184772400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr1:184766200-184775000	Weak transcription	Stomach Mucosa	stomach
25	chr1:184766200-184776600	Weak transcription	Fetal Stomach	stomach
26	chr1:184766800-184770400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:184767200-184775200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:184767400-184772000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:184767400-184775200	Weak transcription	Lung	lung
30	chr1:184767800-184770400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:184768000-184809200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr1:184769600-184770800	Strong transcription	Colon Smooth Muscle	Colon
33	chr1:184769800-184770800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:184769800-184770800	Strong transcription	Fetal Heart	heart
35	chr1:184769800-184771800	Strong transcription	Primary hematopoietic stem cells	blood
36	chr1:184769800-184773800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:184769800-184773800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:184769800-184773800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr1:184769800-184774600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:184769800-184775000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:184770000-184770400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:184770000-184770400	Strong transcription	Fetal Muscle Leg	muscle
43	chr1:184770000-184770400	Strong transcription	Left Ventricle	heart
44	chr1:184770000-184770600	Strong transcription	Stomach Smooth Muscle	stomach
45	chr1:184770000-184770800	Strong transcription	Rectal Smooth Muscle	rectum
46	chr1:184770000-184770800	Strong transcription	Right Ventricle	heart
47	chr1:184770000-184770800	Strong transcription	K562	blood
48	chr1:184770000-184771600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:184770000-184771600	Enhancers	NHDF-Ad	bronchial
50	chr1:184770000-184771800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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