Variant report

Variant	rs2237653
Chromosome Location	chr7:106760048-106760049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:106648480..106651260-chr7:106759004..106761644,2	K562	blood:
2	chr7:106759524..106761230-chr7:106763085..106765571,2	K562	blood:
3	chr7:106758338..106764919-chr7:106770335..106778369,9	K562	blood:
4	chr7:106757284..106760590-chr7:106806811..106809954,4	K562	blood:
5	chr7:106755757..106757924-chr7:106759661..106762165,2	K562	blood:
6	chr7:106628841..106631624-chr7:106757994..106760785,2	K562	blood:

Variant related genes	Relation type
ENSG00000105856	Chromatin interaction
ENSG00000243193	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1004570	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10232542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10241141	0.96[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10241155	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10248105	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10249866	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10261881	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10271426	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10272371	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11509187	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11760966	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11762123	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11764389	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11767753	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11772066	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12055946	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12154324	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17153823	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17153861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17340358	0.87[EUR][1000 genomes]
rs17340479	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17340577	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17341680	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17424512	0.82[EUR][1000 genomes]
rs17425839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860803	0.85[YRI][hapmap]
rs1860804	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1860805	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2041525	0.87[EUR][1000 genomes]
rs2041526	0.87[EUR][1000 genomes]
rs2191917	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2250121	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2536490	0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs28610544	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28873708	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3752645	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4460293	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56704102	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58386564	0.87[EUR][1000 genomes]
rs58979869	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6960708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6971393	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6978486	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs717099	0.85[YRI][hapmap]
rs7778076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7780728	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7780784	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7780830	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7786296	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7786692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8180787	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9641372	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106746600-106760400	Weak transcription	Right Atrium	heart
2	chr7:106756600-106771200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr7:106757800-106760200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr7:106758000-106760200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:106758000-106760200	Enhancers	Fetal Stomach	stomach
6	chr7:106758000-106760600	Enhancers	Fetal Heart	heart
7	chr7:106758200-106760200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr7:106758200-106760400	Enhancers	Adipose Nuclei	Adipose
9	chr7:106758800-106760400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:106758800-106760400	Enhancers	Fetal Brain Female	brain
11	chr7:106758800-106760400	Enhancers	Placenta	Placenta
12	chr7:106759000-106760200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:106759200-106760200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:106759200-106760400	Enhancers	K562	blood
15	chr7:106759200-106762000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:106759200-106762800	Weak transcription	Ovary	ovary
17	chr7:106759400-106760600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:106759400-106761600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:106759400-106762000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:106759400-106762400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:106759400-106762600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr7:106759400-106762800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:106759600-106760400	Weak transcription	Fetal Kidney	kidney
24	chr7:106759800-106762800	Weak transcription	Fetal Lung	lung
25	chr7:106759800-106763400	Weak transcription	NHLF	lung
26	chr7:106759800-106771600	Weak transcription	Brain Anterior Caudate	brain
27	chr7:106759800-106774000	Weak transcription	Left Ventricle	heart
28	chr7:106760000-106760600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr7:106760000-106763200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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