Variant report

Variant	rs7788623
Chromosome Location	chr7:33068953-33068954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr7:33068915-33069030	HepG2	liver:	n/a	chr7:33068977-33068992

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:33062663..33065625-chr7:33067377..33070377,3	K562	blood:
2	chr7:33067995..33070011-chr7:33084627..33087366,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP9-6	chr7:33068843-33069326	NONHSAT120012

Variant related genes	Relation type
NT5C3A	TF binding region
ENSG00000241420	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs6462452	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6462457	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6953386	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6954660	1.00[AMR][1000 genomes]
rs6964996	1.00[AMR][1000 genomes]
rs6968844	1.00[YRI][hapmap]
rs72555717	1.00[AMR][1000 genomes]
rs72555741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7809021	1.00[AMR][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	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv830942	chr7:33048075-33246735	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:33012600-33077600	Weak transcription	Psoas Muscle	Psoas
2	chr7:33038200-33080800	Weak transcription	Fetal Brain Male	brain
3	chr7:33042600-33083200	Weak transcription	Small Intestine	intestine
4	chr7:33051200-33070000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:33051800-33069400	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr7:33052400-33078200	Weak transcription	Fetal Heart	heart
7	chr7:33053400-33072400	Weak transcription	NHLF	lung
8	chr7:33053400-33073800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:33053400-33074400	Weak transcription	Brain Hippocampus Middle	brain
10	chr7:33053400-33077600	Weak transcription	Brain Substantia Nigra	brain
11	chr7:33053800-33077400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr7:33055200-33075800	Weak transcription	Spleen	Spleen
13	chr7:33055200-33078200	Weak transcription	NHEK	skin
14	chr7:33055200-33078400	Weak transcription	HMEC	breast
15	chr7:33055200-33083200	Weak transcription	Fetal Brain Female	brain
16	chr7:33055400-33074200	Weak transcription	NH-A	brain
17	chr7:33055800-33069400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:33056000-33069400	Weak transcription	Aorta	Aorta
19	chr7:33056200-33080400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:33056200-33083200	Weak transcription	Gastric	stomach
21	chr7:33056200-33083200	Weak transcription	Pancreas	Pancrea
22	chr7:33056800-33078800	Weak transcription	Fetal Kidney	kidney
23	chr7:33057400-33077400	Weak transcription	Brain Anterior Caudate	brain
24	chr7:33057600-33069600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:33057600-33079200	Weak transcription	Placenta	Placenta
26	chr7:33057800-33078400	Weak transcription	Stomach Smooth Muscle	stomach
27	chr7:33058000-33074200	Weak transcription	HUVEC	blood vessel
28	chr7:33060000-33071200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr7:33060400-33072600	Weak transcription	Colon Smooth Muscle	Colon
30	chr7:33060600-33077400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:33060600-33078400	Weak transcription	Ovary	ovary
32	chr7:33061000-33077200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:33061800-33073800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr7:33062200-33073800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:33062400-33084000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:33062600-33069600	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:33062600-33071200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr7:33062800-33079200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:33064000-33073800	Weak transcription	HSMM	muscle
40	chr7:33064000-33074000	Weak transcription	HepG2	liver
41	chr7:33064000-33074000	Weak transcription	Osteobl	bone
42	chr7:33064000-33075200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:33064200-33073800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:33064200-33074000	Weak transcription	A549	lung
45	chr7:33064200-33074000	Weak transcription	NHDF-Ad	bronchial
46	chr7:33064200-33075200	Weak transcription	Primary hematopoietic stem cells	blood
47	chr7:33064200-33077400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr7:33064200-33078000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:33064400-33074400	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr7:33064400-33077200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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