Variant report

Variant	rs10504313
Chromosome Location	chr8:61434690-61434691
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61424485..61426842-chr8:61433809..61435349,2	K562	blood:
2	chr8:61429552..61431450-chr8:61433854..61436279,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104388	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11984591	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11984682	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11985737	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11987024	1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11988169	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11988323	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11988389	1.00[CHB][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11991778	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11996337	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11997369	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs16926228	0.85[ASN][1000 genomes]
rs16926248	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926250	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16926256	1.00[CHB][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926277	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926304	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926305	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16926308	1.00[ASN][1000 genomes]
rs16926311	1.00[ASN][1000 genomes]
rs16926338	1.00[CHB][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2326572	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2930038	1.00[CHB][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2930041	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946149	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2946150	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2981283	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60075768	0.87[ASN][1000 genomes]
rs60440859	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs60504642	1.00[ASN][1000 genomes]
rs61174790	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61291329	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6471887	1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6987831	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7000882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7001063	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7005259	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7016173	1.00[CHB][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs73243810	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257409	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257414	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257427	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257433	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257434	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257435	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257440	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257484	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73257495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs73257499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259488	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73259499	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261204	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261219	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261234	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73261269	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7341555	0.94[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7341633	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7815886	1.00[CHB][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7816273	1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7825285	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7827528	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7834982	1.00[CHB][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7839008	1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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 target site	74 gene(s)	inside rSNPs	diseases
2	nsv971314	chr8:61359401-61436209	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv530383	chr8:61431756-61605551	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61431000-61435400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr8:61431000-61436600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:61431000-61438200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:61431200-61434800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:61431200-61438200	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:61431600-61438200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr8:61431600-61441600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr8:61431800-61435600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr8:61431800-61446800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr8:61432000-61434800	Enhancers	Brain Substantia Nigra	brain
11	chr8:61432000-61434800	Enhancers	Colon Smooth Muscle	Colon
12	chr8:61432000-61435400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr8:61432000-61435600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr8:61432000-61437600	Enhancers	Primary neutrophils fromperipheralblood	blood
15	chr8:61432000-61439200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr8:61432000-61440200	Enhancers	Liver	Liver
17	chr8:61432200-61434800	Enhancers	HMEC	breast
18	chr8:61432200-61435200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:61432200-61435400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr8:61432200-61435400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:61432200-61435400	Enhancers	HepG2	liver
22	chr8:61432200-61435400	Enhancers	NHEK	skin
23	chr8:61432200-61436000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr8:61432200-61436600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr8:61432200-61437800	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr8:61432400-61435400	Enhancers	Duodenum Mucosa	Duodenum
27	chr8:61432600-61435000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:61432600-61435000	Enhancers	Brain Anterior Caudate	brain
29	chr8:61432600-61435400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:61432600-61435400	Enhancers	NH-A	brain
31	chr8:61432600-61435600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr8:61432600-61436600	Weak transcription	Fetal Brain Male	brain
33	chr8:61432600-61436600	Weak transcription	Fetal Stomach	stomach
34	chr8:61432600-61437400	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr8:61432600-61442600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr8:61432600-61443000	Weak transcription	Thymus	Thymus
37	chr8:61432600-61446600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr8:61432800-61435400	Enhancers	Right Ventricle	heart
39	chr8:61432800-61436400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:61432800-61437400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:61432800-61437800	Enhancers	Osteobl	bone
42	chr8:61432800-61444000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr8:61433000-61434800	Enhancers	Psoas Muscle	Psoas
44	chr8:61433000-61435000	Enhancers	Ovary	ovary
45	chr8:61433000-61435000	Enhancers	HSMMtube	muscle
46	chr8:61433000-61435400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr8:61433000-61435400	Enhancers	Stomach Smooth Muscle	stomach
48	chr8:61433000-61435600	Enhancers	A549	lung
49	chr8:61433000-61437000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:61433000-61438400	Enhancers	Fetal Heart	heart

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