Variant report

Variant	rs7770596
Chromosome Location	chr6:30895040-30895041
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	chr6:30840919..30843118-chr6:30894417..30896304,2	K562	blood:
2	chr6:30891056..30892872-chr6:30894478..30895984,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10947109	0.94[ASN][1000 genomes]
rs11759918	0.82[ASN][1000 genomes]
rs17189749	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17196123	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17840009	0.82[ASN][1000 genomes]
rs2894054	0.91[ASN][1000 genomes]
rs3218804	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3218825	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs45627239	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55697712	0.94[ASN][1000 genomes]
rs59124304	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6926224	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6926723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6940037	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73727104	0.94[ASN][1000 genomes]
rs73727106	0.94[ASN][1000 genomes]
rs73727107	0.85[ASN][1000 genomes]
rs73727480	0.90[ASN][1000 genomes]
rs7747800	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7761138	0.85[ASN][1000 genomes]
rs7772269	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv525438	chr6:30864829-30933975	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv884126	chr6:30886350-30895990	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30883400-30895800	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:30883400-30897000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr6:30883800-30895200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:30883800-30895800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:30883800-30896600	Strong transcription	Fetal Muscle Leg	muscle
6	chr6:30884000-30895800	Strong transcription	Fetal Muscle Trunk	muscle
7	chr6:30884000-30896000	Strong transcription	Fetal Stomach	stomach
8	chr6:30884000-30896200	Strong transcription	Fetal Thymus	thymus
9	chr6:30884000-30897000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:30884200-30895400	Strong transcription	Duodenum Mucosa	Duodenum
11	chr6:30884200-30895600	Strong transcription	Fetal Intestine Small	intestine
12	chr6:30884200-30896200	Strong transcription	Fetal Brain Female	brain
13	chr6:30884400-30895600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:30884400-30895800	Strong transcription	Primary T cells from cord blood	blood
15	chr6:30884600-30895200	Strong transcription	Thymus	Thymus
16	chr6:30884600-30895400	Strong transcription	Ovary	ovary
17	chr6:30884600-30896000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:30884600-30896200	Strong transcription	Liver	Liver
19	chr6:30884800-30896000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:30884800-30896400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:30884800-30896600	Strong transcription	Brain Germinal Matrix	brain
22	chr6:30885000-30895600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:30885000-30896600	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr6:30885600-30896200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:30885800-30895400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:30887200-30896600	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr6:30887400-30895400	Strong transcription	Brain Hippocampus Middle	brain
28	chr6:30889400-30895200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:30889400-30895400	Weak transcription	HUVEC	blood vessel
30	chr6:30889400-30900000	Weak transcription	Small Intestine	intestine
31	chr6:30889600-30896000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:30890400-30895800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr6:30890800-30896200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:30891400-30896000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr6:30891600-30896400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:30891800-30896200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr6:30892600-30899600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr6:30893200-30895200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:30893400-30895200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:30893400-30896600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr6:30894000-30895200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:30894000-30896400	Strong transcription	Primary B cells from cord blood	blood
43	chr6:30894200-30896600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr6:30894200-30898800	Weak transcription	NHLF	lung
45	chr6:30894400-30895600	Enhancers	Stomach Mucosa	stomach
46	chr6:30894400-30896200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:30894400-30896200	Weak transcription	Osteobl	bone
48	chr6:30894400-30896400	Weak transcription	Brain Substantia Nigra	brain
49	chr6:30894400-30896400	Weak transcription	NH-A	brain
50	chr6:30894600-30896200	Weak transcription	Esophagus	oesophagus

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