Variant report

Variant	rs7828192
Chromosome Location	chr8:124804669-124804670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124801240..124804188-chr8:124804608..124806516,2	K562	blood:
2	chr8:124789719..124793207-chr8:124802440..124805380,4	K562	blood:
3	chr8:124794105..124797092-chr8:124803307..124805966,2	K562	blood:
4	chr8:124799192..124802575-chr8:124804552..124807453,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10087476	0.87[ASN][1000 genomes]
rs10102074	0.89[ASN][1000 genomes]
rs10481071	0.87[ASN][1000 genomes]
rs10481072	0.87[ASN][1000 genomes]
rs10481073	0.87[ASN][1000 genomes]
rs10481151	0.86[ASN][1000 genomes]
rs11986791	0.87[ASN][1000 genomes]
rs12334564	0.85[JPT][hapmap];0.82[AMR][1000 genomes]
rs12541177	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12546891	0.95[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs12549683	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13253599	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs13270541	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13278088	0.86[ASN][1000 genomes]
rs1367829	0.81[ASW][hapmap];0.94[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16898871	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs1966620	0.85[ASN][1000 genomes]
rs2060112	0.95[CHB][hapmap];0.92[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs2272683	1.00[CHB][hapmap];0.90[JPT][hapmap];0.87[ASN][1000 genomes]
rs2385515	0.87[ASN][1000 genomes]
rs2385516	0.84[ASN][1000 genomes]
rs28495871	0.87[ASN][1000 genomes]
rs3911939	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4871414	0.87[ASN][1000 genomes]
rs4871415	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]
rs60068098	0.84[ASN][1000 genomes]
rs6470186	1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.86[MEX][hapmap];0.85[ASN][1000 genomes]
rs66474276	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs66515434	0.87[ASN][1000 genomes]
rs67139073	0.87[ASN][1000 genomes]
rs67237665	0.87[ASN][1000 genomes]
rs67958403	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6985019	1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs6986384	0.87[ASN][1000 genomes]
rs6988602	0.91[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.92[ASN][1000 genomes]
rs6990565	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6998271	0.87[ASN][1000 genomes]
rs7012004	0.85[ASN][1000 genomes]
rs7015861	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73337418	0.87[ASN][1000 genomes]
rs73337464	0.87[ASN][1000 genomes]
rs73337467	0.87[ASN][1000 genomes]
rs73337469	0.87[ASN][1000 genomes]
rs7815695	0.90[AMR][1000 genomes]
rs7827025	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs7827665	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7833650	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7846164	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs874205	0.87[ASN][1000 genomes]
rs874206	0.87[ASN][1000 genomes]
rs874207	0.87[ASN][1000 genomes]
rs9297675	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs9297676	0.87[ASN][1000 genomes]
rs9656947	0.84[JPT][hapmap]
rs9918907	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][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	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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124781800-124811200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:124782200-124807800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr8:124783600-124808000	Weak transcription	Fetal Heart	heart
4	chr8:124785400-124815000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:124785600-124815000	Strong transcription	Duodenum Mucosa	Duodenum
6	chr8:124785800-124829000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:124786000-124825200	Strong transcription	Fetal Thymus	thymus
8	chr8:124786200-124814400	Strong transcription	HSMM	muscle
9	chr8:124786200-124815200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:124786200-124815400	Strong transcription	Dnd41	blood
11	chr8:124786200-124825200	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr8:124786400-124805400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr8:124786400-124813800	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:124786400-124815000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr8:124786400-124815200	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr8:124786400-124827200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr8:124786800-124814600	Strong transcription	Placenta	Placenta
18	chr8:124787000-124813800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:124787000-124816400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr8:124787000-124822800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr8:124787000-124827000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:124787400-124814400	Strong transcription	A549	lung
23	chr8:124787600-124818800	Strong transcription	Liver	Liver
24	chr8:124789200-124824600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:124789400-124814800	Strong transcription	Primary T cells fromperipheralblood	blood
26	chr8:124789400-124821600	Weak transcription	Stomach Mucosa	stomach
27	chr8:124789400-124825200	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr8:124789600-124811400	Strong transcription	Fetal Lung	lung
29	chr8:124789800-124827400	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr8:124790000-124827800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:124790200-124828600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:124790400-124807000	Strong transcription	NHDF-Ad	bronchial
33	chr8:124790600-124814800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:124790800-124806800	Strong transcription	NH-A	brain
35	chr8:124790800-124813400	Strong transcription	HUVEC	blood vessel
36	chr8:124790800-124814400	Strong transcription	Osteobl	bone
37	chr8:124790800-124815800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:124790800-124825200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr8:124791000-124805800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:124791000-124828600	Strong transcription	Primary B cells from cord blood	blood
41	chr8:124791000-124828600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr8:124791200-124805600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr8:124791200-124806000	Strong transcription	Brain Hippocampus Middle	brain
44	chr8:124791200-124806200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr8:124791200-124806400	Strong transcription	Hela-S3	cervix
46	chr8:124791200-124814200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr8:124791200-124815000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:124791200-124815800	Strong transcription	Adipose Nuclei	Adipose
49	chr8:124791200-124828600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr8:124791200-124828600	Strong transcription	Primary monocytes fromperipheralblood	blood

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