Variant report

Variant	rs6964344
Chromosome Location	chr7:120591936-120591937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:120494775..120497431-chr7:120590834..120592743,2	K562	blood:
2	chr7:120495769..120499665-chr7:120588624..120592417,7	MCF-7	breast:
3	chr7:120588429..120592994-chr7:120712560..120717211,6	K562	blood:
4	chr7:120589475..120592677-chr7:120719093..120725846,11	K562	blood:
5	chr7:120588468..120596180-chr7:120604298..120610010,9	MCF-7	breast:
6	chr7:120589600..120593889-chr7:120719099..120726294,8	K562	blood:
7	chr7:120591610..120593367-chr7:120598953..120601723,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106025	Chromatin interaction
ENSG00000106034	Chromatin interaction
ENSG00000212628	Chromatin interaction
ENSG00000071243	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10225453	0.81[JPT][hapmap]
rs10238554	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10252911	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10257297	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10257475	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10261886	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs10272601	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10274689	0.81[JPT][hapmap]
rs10282072	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10464522	0.82[ASN][1000 genomes]
rs10953922	0.82[ASN][1000 genomes]
rs12154992	1.00[CEU][hapmap]
rs13438082	0.83[ASN][1000 genomes]
rs1557857	0.83[ASN][1000 genomes]
rs17132716	1.00[CEU][hapmap]
rs17142995	0.81[JPT][hapmap]
rs17143055	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs1859316	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1859318	0.83[ASN][1000 genomes]
rs1859319	0.85[JPT][hapmap];0.83[ASN][1000 genomes]
rs2074577	0.89[CHB][hapmap];0.90[CHD][hapmap];0.81[ASN][1000 genomes]
rs2107276	0.85[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2244863	0.89[CHB][hapmap];0.90[CHD][hapmap];0.81[ASN][1000 genomes]
rs2244865	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs2248890	0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs2525705	0.83[ASN][1000 genomes]
rs2525708	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2525709	0.82[ASN][1000 genomes]
rs2525712	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs2525713	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs2525719	0.81[ASN][1000 genomes]
rs2525737	0.81[ASN][1000 genomes]
rs2525743	0.82[ASN][1000 genomes]
rs2721341	0.82[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs2721347	0.81[JPT][hapmap]
rs2721354	0.95[CHB][hapmap];0.90[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2721363	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs2721365	0.81[ASN][1000 genomes]
rs2721367	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs2721372	0.81[ASN][1000 genomes]
rs3757556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757557	1.00[CEU][hapmap];0.83[CHD][hapmap]
rs3779386	0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[TSI][hapmap]
rs3779387	1.00[CEU][hapmap]
rs3823859	0.81[JPT][hapmap]
rs4141301	1.00[CEU][hapmap]
rs4141309	1.00[CEU][hapmap];0.83[CHD][hapmap]
rs41688	0.83[CHB][hapmap];0.82[CHD][hapmap]
rs41690	0.89[CHB][hapmap];0.90[CHD][hapmap];0.81[ASN][1000 genomes]
rs4461820	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs6466759	0.81[JPT][hapmap]
rs6466760	0.81[JPT][hapmap]
rs6466761	0.81[JPT][hapmap]
rs6466762	0.81[JPT][hapmap]
rs6953454	0.81[JPT][hapmap]
rs6959328	0.85[JPT][hapmap]
rs6971619	0.81[ASN][1000 genomes]
rs6971854	0.85[CHB][hapmap];0.90[JPT][hapmap]
rs6975372	1.00[CEU][hapmap];0.83[ASN][1000 genomes]
rs6979247	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs732568	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73429803	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs745167	0.82[ASN][1000 genomes]
rs7776721	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7781985	0.81[JPT][hapmap]
rs9649429	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs996903	0.81[JPT][hapmap]

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	esv1818826	chr7:120405335-120622836	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr7:120589200-120592000	Active TSS	K562	blood
2	chr7:120589400-120592000	Active TSS	Fetal Thymus	thymus
3	chr7:120589400-120592400	Active TSS	A549	lung
4	chr7:120589600-120592000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:120589600-120592000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:120589600-120592000	Active TSS	Thymus	Thymus
7	chr7:120589600-120592000	Active TSS	HepG2	liver
8	chr7:120589600-120592200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:120589800-120592000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:120589800-120592000	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr7:120589800-120592000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:120589800-120592000	Active TSS	Aorta	Aorta
13	chr7:120589800-120592000	Active TSS	Brain Germinal Matrix	brain
14	chr7:120589800-120592000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:120589800-120592000	Active TSS	Stomach Smooth Muscle	stomach
16	chr7:120589800-120592400	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:120589800-120592400	Active TSS	NHLF	lung
18	chr7:120590000-120592000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:120590000-120592000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:120590000-120592000	Active TSS	Fetal Muscle Leg	muscle
21	chr7:120590000-120592200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:120590000-120592200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:120590000-120592400	Active TSS	Psoas Muscle	Psoas
24	chr7:120590000-120592400	Active TSS	Right Ventricle	heart
25	chr7:120590200-120592000	Active TSS	NHDF-Ad	bronchial
26	chr7:120591200-120592200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr7:120591200-120592200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
28	chr7:120591200-120592400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:120591400-120592000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr7:120591400-120592000	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr7:120591400-120592000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
32	chr7:120591400-120592000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr7:120591400-120592200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr7:120591400-120592200	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr7:120591400-120592200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
36	chr7:120591400-120592200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr7:120591400-120592200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr7:120591400-120592200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr7:120591400-120592200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:120591400-120592200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:120591400-120592200	Flanking Active TSS	Liver	Liver
42	chr7:120591400-120592200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr7:120591400-120592200	Flanking Active TSS	NHEK	skin
44	chr7:120591400-120592400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:120591400-120592400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr7:120591400-120592400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr7:120591400-120592400	Active TSS	Right Atrium	heart
48	chr7:120591400-120592400	Flanking Active TSS	HMEC	breast
49	chr7:120591400-120592400	Flanking Active TSS	HUVEC	blood vessel
50	chr7:120591400-120592400	Flanking Active TSS	NH-A	brain

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