Variant report

Variant	rs7656970
Chromosome Location	chr4:152996166-152996167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:152994631..152998650-chr4:152999260..153001615,3	K562	blood:
2	chr4:152994994..152996876-chr4:152998778..153001469,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10006527	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10029800	0.82[AMR][1000 genomes]
rs11099841	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11724208	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11737270	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11935999	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13130541	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13131963	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059490	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2059493	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4696129	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4696313	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6535834	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6823781	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6852045	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7656585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7681486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7695682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9996858	0.81[AMR][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	nsv432644	chr4:152635395-153023402	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:152983800-153000800	Enhancers	Fetal Thymus	thymus
2	chr4:152985200-152996200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr4:152985200-153000000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:152986800-152998000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:152989400-153000400	Enhancers	Thymus	Thymus
6	chr4:152990400-152997600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:152990400-152998600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr4:152990400-153000000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr4:152990800-152996600	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr4:152992800-152996200	Enhancers	Fetal Heart	heart
11	chr4:152993000-152996800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:152994000-152996400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:152994200-152996200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr4:152994200-152996200	Weak transcription	Dnd41	blood
15	chr4:152994600-152998800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:152995000-152997600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr4:152995200-152996400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:152995200-152996400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr4:152995400-152996800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:152995400-153000600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:152995400-153000800	Enhancers	Primary T cells from cord blood	blood
22	chr4:152995800-152996800	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr4:152995800-152997000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:152996000-152996800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:152996000-152996800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:152996000-152997000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:152996000-153000000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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