Variant report

Variant	rs4871415
Chromosome Location	chr8:124814481-124814482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124792430..124794723-chr8:124811717..124815050,3	MCF-7	breast:
2	chr8:124805880..124808291-chr8:124814398..124816910,2	MCF-7	breast:
3	chr8:124812507..124814669-chr8:124816701..124818733,2	K562	blood:
4	chr8:124779397..124782009-chr8:124814310..124816091,2	K562	blood:
5	chr8:124814412..124816720-chr8:124818333..124820559,2	MCF-7	breast:
6	chr8:124780215..124782108-chr8:124812179..124814853,2	MCF-7	breast:
7	chr8:124807128..124809976-chr8:124813752..124817670,3	K562	blood:

Variant related genes	Relation type
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10087476	0.94[ASN][1000 genomes]
rs10102074	0.82[ASN][1000 genomes]
rs10429369	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10481071	0.94[ASN][1000 genomes]
rs10481072	0.94[ASN][1000 genomes]
rs10481073	0.94[ASN][1000 genomes]
rs10481151	0.93[ASN][1000 genomes]
rs11986791	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12541177	1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[ASN][1000 genomes]
rs12546891	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12549683	0.85[ASN][1000 genomes]
rs12550235	0.92[CEU][hapmap];0.94[GIH][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13253599	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13261392	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13270541	0.87[ASN][1000 genomes]
rs13275308	0.92[CEU][hapmap];0.94[GIH][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13278088	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13278192	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1367829	0.86[CHB][hapmap];0.92[CHD][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs16898871	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1835691	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1966620	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2060112	0.95[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.86[TSI][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2272683	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385515	0.94[ASN][1000 genomes]
rs2385516	0.91[ASN][1000 genomes]
rs28495871	0.94[ASN][1000 genomes]
rs34253744	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34354351	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34850344	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35420592	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3911939	0.88[ASN][1000 genomes]
rs4870867	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4871414	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60068098	0.91[ASN][1000 genomes]
rs6470186	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66474276	0.87[ASN][1000 genomes]
rs66515434	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67139073	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67237665	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67958403	0.87[ASN][1000 genomes]
rs6985019	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6986269	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6986384	0.94[ASN][1000 genomes]
rs6988602	1.00[CEU][hapmap];0.91[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6998271	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7004482	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7012004	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7014688	0.92[CEU][hapmap];0.94[GIH][hapmap];0.81[MEX][hapmap];0.83[TSI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7015861	1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.82[MEX][hapmap];0.87[ASN][1000 genomes]
rs7017174	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73333742	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73337418	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73337464	0.94[ASN][1000 genomes]
rs73337467	0.94[ASN][1000 genomes]
rs73337469	0.94[ASN][1000 genomes]
rs7827025	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7827665	0.92[ASN][1000 genomes]
rs7828192	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.92[ASN][1000 genomes]
rs7833650	1.00[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs7846164	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs874205	0.94[ASN][1000 genomes]
rs874206	0.94[ASN][1000 genomes]
rs874207	0.94[ASN][1000 genomes]
rs9297674	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9297675	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9297676	0.94[ASN][1000 genomes]
rs9918907	1.00[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.87[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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv972575	chr8:124810138-124821383	Strong transcription Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	1 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	chr8:124785400-124815000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:124785600-124815000	Strong transcription	Duodenum Mucosa	Duodenum
3	chr8:124785800-124829000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr8:124786000-124825200	Strong transcription	Fetal Thymus	thymus
5	chr8:124786200-124815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:124786200-124815400	Strong transcription	Dnd41	blood
7	chr8:124786200-124825200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:124786400-124815000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr8:124786400-124815200	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr8:124786400-124827200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:124786800-124814600	Strong transcription	Placenta	Placenta
12	chr8:124787000-124816400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:124787000-124822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:124787000-124827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr8:124787600-124818800	Strong transcription	Liver	Liver
16	chr8:124789200-124824600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:124789400-124814800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr8:124789400-124821600	Weak transcription	Stomach Mucosa	stomach
19	chr8:124789400-124825200	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr8:124789800-124827400	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr8:124790000-124827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:124790200-124828600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:124790600-124814800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:124790800-124815800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:124790800-124825200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr8:124791000-124828600	Strong transcription	Primary B cells from cord blood	blood
27	chr8:124791000-124828600	Strong transcription	Primary B cells from peripheral blood	blood
28	chr8:124791200-124815000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:124791200-124815800	Strong transcription	Adipose Nuclei	Adipose
30	chr8:124791200-124828600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:124791200-124828600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr8:124791200-124829000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr8:124791200-124829200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:124791400-124816000	Strong transcription	Primary T cells from cord blood	blood
35	chr8:124792200-124815600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr8:124793400-124814600	Strong transcription	Fetal Intestine Large	intestine
37	chr8:124793400-124815800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr8:124793600-124814800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr8:124793600-124815800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:124793800-124815400	Strong transcription	Left Ventricle	heart
41	chr8:124793800-124815800	Strong transcription	Fetal Muscle Leg	muscle
42	chr8:124794200-124825000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr8:124795600-124815600	Strong transcription	GM12878-XiMat	blood
44	chr8:124797800-124826000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:124798400-124826400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr8:124799400-124821400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:124799600-124822600	Weak transcription	Small Intestine	intestine
48	chr8:124800200-124822600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr8:124801600-124814800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:124801800-124816000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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