Variant report

Variant	rs7846164
Chromosome Location	chr8:124783470-124783471
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124781673..124784169-chr8:125486247..125488421,2	K562	blood:
2	chr8:124781580..124785011-chr8:124789529..124792359,3	K562	blood:
3	chr8:124762529..124765233-chr8:124782573..124785539,2	MCF-7	breast:
4	chr8:124782700..124784359-chr8:125486882..125489322,2	MCF-7	breast:
5	chr8:124781412..124783619-chr8:124810704..124812373,2	K562	blood:

Variant related genes	Relation type
ENSG00000245149	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000176853	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10429369	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11986791	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12334564	0.83[CHB][hapmap];0.80[JPT][hapmap];0.82[ASN][1000 genomes]
rs12541177	0.96[CHB][hapmap];0.85[JPT][hapmap]
rs12546891	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12550235	0.92[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13253599	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13261392	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13275308	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13278088	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13278192	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1367829	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs16898871	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1835691	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1966620	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2060112	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs2272683	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34253744	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34354351	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34850344	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35420592	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870867	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4871414	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4871415	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]
rs6470186	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs66515434	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67139073	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67237665	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6985019	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6986269	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6988602	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6990565	0.84[ASN][1000 genomes]
rs6998271	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7004482	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7012004	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7014688	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7015861	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs7017174	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73333742	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73337418	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7815695	0.92[ASN][1000 genomes]
rs7827025	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7828192	0.95[CHB][hapmap];0.85[JPT][hapmap]
rs7833650	0.96[CHB][hapmap];0.80[JPT][hapmap]
rs9297674	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9297675	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9918907	0.95[CHB][hapmap];0.85[JPT][hapmap]

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	nsv6373	chr8:124741567-124786609	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124781000-124783600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr8:124781200-124783600	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr8:124781200-124783600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr8:124781400-124783600	Flanking Active TSS	Dnd41	blood
5	chr8:124781400-124783600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr8:124781600-124785600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:124781600-124790800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:124781800-124783600	Enhancers	Brain Cingulate Gyrus	brain
9	chr8:124781800-124783600	Enhancers	Brain Germinal Matrix	brain
10	chr8:124781800-124783600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:124781800-124783600	Enhancers	Pancreas	Pancrea
12	chr8:124781800-124783600	Enhancers	Spleen	Spleen
13	chr8:124781800-124785200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:124781800-124785400	Enhancers	Primary T cells fromperipheralblood	blood
15	chr8:124781800-124785600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:124781800-124785600	Enhancers	Colon Smooth Muscle	Colon
17	chr8:124781800-124786000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:124781800-124786200	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr8:124781800-124787400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:124781800-124788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr8:124781800-124796000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr8:124781800-124811200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:124782000-124783600	Enhancers	Ovary	ovary
24	chr8:124782000-124783600	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr8:124782000-124783600	Enhancers	HSMMtube	muscle
26	chr8:124782000-124784200	Enhancers	Small Intestine	intestine
27	chr8:124782000-124784800	Enhancers	Brain Hippocampus Middle	brain
28	chr8:124782000-124785800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:124782000-124786000	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr8:124782000-124786200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:124782000-124787000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:124782000-124787000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:124782000-124787400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:124782200-124783600	Enhancers	Brain Angular Gyrus	brain
35	chr8:124782200-124783600	Enhancers	Fetal Intestine Large	intestine
36	chr8:124782200-124783600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr8:124782200-124785000	Enhancers	Thymus	Thymus
38	chr8:124782200-124786200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:124782200-124786200	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr8:124782200-124786400	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr8:124782200-124786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:124782200-124786800	Weak transcription	Placenta	Placenta
43	chr8:124782200-124787000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:124782200-124787000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr8:124782200-124787400	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr8:124782200-124787400	Weak transcription	Fetal Stomach	stomach
47	chr8:124782200-124791000	Weak transcription	Fetal Kidney	kidney
48	chr8:124782200-124807800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:124782400-124783600	Flanking Active TSS	HUVEC	blood vessel
50	chr8:124782400-124784800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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