Variant report

Variant	rs7815695
Chromosome Location	chr8:124783978-124783979
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	chr20:55706143..55707939-chr8:124783490..124786194,2	MCF-7	breast:
3	chr8:124781580..124785011-chr8:124789529..124792359,3	K562	blood:
4	chr8:124762529..124765233-chr8:124782573..124785539,2	MCF-7	breast:
5	chr8:124782700..124784359-chr8:125486882..125489322,2	MCF-7	breast:

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

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10087476	0.83[ASN][1000 genomes]
rs10481071	0.83[ASN][1000 genomes]
rs10481072	0.83[ASN][1000 genomes]
rs10481073	0.83[ASN][1000 genomes]
rs10481151	0.82[ASN][1000 genomes]
rs11986791	0.84[ASN][1000 genomes]
rs12334564	0.85[AMR][1000 genomes]
rs12541177	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12546891	0.84[ASN][1000 genomes]
rs12549683	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13253599	0.85[ASN][1000 genomes]
rs13261392	0.95[ASN][1000 genomes]
rs13270541	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13278088	0.82[ASN][1000 genomes]
rs1367829	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1966620	0.82[ASN][1000 genomes]
rs2060112	0.80[ASN][1000 genomes]
rs2272683	0.82[ASN][1000 genomes]
rs2385515	0.83[ASN][1000 genomes]
rs2385516	0.80[ASN][1000 genomes]
rs28495871	0.83[ASN][1000 genomes]
rs35420592	0.86[ASN][1000 genomes]
rs3911939	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4871414	0.82[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs60068098	0.85[ASN][1000 genomes]
rs6470186	0.81[ASN][1000 genomes]
rs66515434	0.83[ASN][1000 genomes]
rs67139073	0.83[ASN][1000 genomes]
rs67237665	0.84[ASN][1000 genomes]
rs6985019	0.82[ASN][1000 genomes]
rs6986384	0.83[ASN][1000 genomes]
rs6988602	0.83[AMR][1000 genomes]
rs6990565	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6998271	0.81[ASN][1000 genomes]
rs7012004	0.85[ASN][1000 genomes]
rs7015861	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73337418	0.83[ASN][1000 genomes]
rs73337464	0.83[ASN][1000 genomes]
rs73337467	0.83[ASN][1000 genomes]
rs73337469	0.83[ASN][1000 genomes]
rs7827665	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7828192	0.90[AMR][1000 genomes]
rs7833650	0.90[AMR][1000 genomes]
rs7846164	0.92[ASN][1000 genomes]
rs874205	0.83[ASN][1000 genomes]
rs874206	0.83[ASN][1000 genomes]
rs874207	0.83[ASN][1000 genomes]
rs9297676	0.83[ASN][1000 genomes]
rs9918907	0.87[AMR][1000 genomes];0.80[EUR][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	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124781600-124785600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:124781600-124790800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:124781800-124785200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr8:124781800-124785400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr8:124781800-124785600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr8:124781800-124785600	Enhancers	Colon Smooth Muscle	Colon
7	chr8:124781800-124786000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr8:124781800-124786200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr8:124781800-124787400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:124781800-124788600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:124781800-124796000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:124781800-124811200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:124782000-124784200	Enhancers	Small Intestine	intestine
14	chr8:124782000-124784800	Enhancers	Brain Hippocampus Middle	brain
15	chr8:124782000-124785800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr8:124782000-124786000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr8:124782000-124786200	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:124782000-124787000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:124782000-124787000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:124782000-124787400	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:124782200-124785000	Enhancers	Thymus	Thymus
22	chr8:124782200-124786200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr8:124782200-124786200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:124782200-124786400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:124782200-124786400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:124782200-124786800	Weak transcription	Placenta	Placenta
27	chr8:124782200-124787000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:124782200-124787000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:124782200-124787400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:124782200-124787400	Weak transcription	Fetal Stomach	stomach
31	chr8:124782200-124791000	Weak transcription	Fetal Kidney	kidney
32	chr8:124782200-124807800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:124782400-124784800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr8:124782400-124787400	Weak transcription	Fetal Brain Male	brain
35	chr8:124782600-124785000	Enhancers	Liver	Liver
36	chr8:124782600-124785200	Weak transcription	Fetal Thymus	thymus
37	chr8:124782600-124785800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr8:124782600-124786200	Weak transcription	HSMM	muscle
39	chr8:124782600-124787000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr8:124782600-124787000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr8:124782600-124787400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:124782600-124787400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:124782600-124791200	Weak transcription	Esophagus	oesophagus
44	chr8:124782600-124791400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr8:124782600-124793600	Weak transcription	Lung	lung
46	chr8:124782600-124795800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr8:124782800-124784200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr8:124782800-124784800	Enhancers	Brain Anterior Caudate	brain
49	chr8:124782800-124786000	Enhancers	Primary T cells from cord blood	blood
50	chr8:124782800-124786000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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