Variant report

Variant	rs8000946
Chromosome Location	chr13:37547260-37547261
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:37545917..37548370-chr13:37551450..37554036,3	K562	blood:
2	chr13:37546822..37548370-chr13:37551450..37554036,2	K562	blood:
3	chr13:37545958..37547521-chr13:37573277..37574925,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120697	Chromatin interaction
ENSG00000120699	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11147624	0.86[JPT][hapmap]
rs11147625	0.86[JPT][hapmap]
rs11147626	0.86[JPT][hapmap]
rs11147627	0.86[JPT][hapmap]
rs1127446	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2078022	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2243710	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs2323396	0.86[JPT][hapmap]
rs3818380	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs3852618	0.86[JPT][hapmap]
rs3852619	0.91[JPT][hapmap]
rs3864999	0.86[JPT][hapmap]
rs4054546	0.89[JPT][hapmap]
rs4943438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4943440	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336575	0.99[ASN][1000 genomes]
rs7989745	0.86[ASN][1000 genomes]
rs9315455	0.86[JPT][hapmap]
rs9469	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];0.93[JPT][hapmap];0.85[MKK][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9532003	0.97[ASN][1000 genomes]
rs954370	1.00[JPT][hapmap]
rs9547708	0.99[ASN][1000 genomes]
rs9547709	0.97[ASN][1000 genomes]
rs9547711	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9547713	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs9566172	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9566177	0.86[JPT][hapmap]
rs9566178	0.84[JPT][hapmap]
rs9576144	0.96[CEU][hapmap];0.80[CHB][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9576145	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9576146	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9576147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576149	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576150	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9576151	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9576156	1.00[CHB][hapmap];0.98[GIH][hapmap];0.93[JPT][hapmap];0.83[MKK][hapmap];0.83[ASN][1000 genomes]
rs9576161	0.94[CHB][hapmap]
rs9576167	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap]
rs9576176	0.86[JPT][hapmap]
rs9576177	0.86[JPT][hapmap]
rs9576178	0.86[JPT][hapmap]
rs9576181	0.86[JPT][hapmap]
rs9603126	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv522336	chr13:37305641-37584838	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37519600-37561400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:37520600-37560800	Weak transcription	Small Intestine	intestine
3	chr13:37522600-37548800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:37523200-37558200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr13:37524000-37563800	Weak transcription	Psoas Muscle	Psoas
6	chr13:37524600-37572400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:37525000-37560800	Weak transcription	Fetal Heart	heart
8	chr13:37526600-37556200	Weak transcription	Brain Angular Gyrus	brain
9	chr13:37526800-37559400	Weak transcription	Hela-S3	cervix
10	chr13:37529400-37558200	Weak transcription	Gastric	stomach
11	chr13:37529600-37555600	Weak transcription	Stomach Mucosa	stomach
12	chr13:37531800-37570000	Strong transcription	Dnd41	blood
13	chr13:37535200-37553600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr13:37535400-37549600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr13:37539000-37558400	Weak transcription	Colonic Mucosa	Colon
16	chr13:37539000-37561000	Weak transcription	Aorta	Aorta
17	chr13:37539200-37558000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr13:37539400-37561000	Weak transcription	Right Ventricle	heart
19	chr13:37539400-37562400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr13:37539600-37549000	Weak transcription	Ovary	ovary
21	chr13:37539600-37558200	Weak transcription	Brain Germinal Matrix	brain
22	chr13:37539600-37562400	Weak transcription	Fetal Brain Male	brain
23	chr13:37539800-37557600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr13:37540200-37548000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr13:37540200-37549000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr13:37540200-37549000	Weak transcription	Pancreas	Pancrea
27	chr13:37540200-37549200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr13:37540200-37553800	Weak transcription	HSMMtube	muscle
29	chr13:37540200-37558800	Weak transcription	Fetal Kidney	kidney
30	chr13:37540200-37561400	Weak transcription	Esophagus	oesophagus
31	chr13:37540200-37562200	Weak transcription	K562	blood
32	chr13:37540400-37548000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr13:37540400-37558400	Weak transcription	Brain Substantia Nigra	brain
34	chr13:37540800-37556200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr13:37541000-37549400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr13:37541000-37549600	Weak transcription	Brain Anterior Caudate	brain
37	chr13:37541000-37554200	Weak transcription	NHEK	skin
38	chr13:37541000-37558600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr13:37541200-37549000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr13:37541400-37549200	Strong transcription	NHDF-Ad	bronchial
41	chr13:37542000-37553000	Weak transcription	HepG2	liver
42	chr13:37542200-37547400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:37542400-37556400	Weak transcription	Colon Smooth Muscle	Colon
44	chr13:37542600-37549800	Strong transcription	Primary hematopoietic stem cells	blood
45	chr13:37543200-37547400	Weak transcription	NH-A	brain
46	chr13:37543200-37548800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr13:37543200-37549400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr13:37543200-37558400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr13:37543400-37547400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:37543400-37547400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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