Variant report

Variant	rs1372571
Chromosome Location	chr6:46293839-46293840
allele	C/T
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	KAP1	chr6:46293103-46294058	U2OS	brain:	n/a	n/a
2	REST	chr6:46292798-46294411	H1-neurons	neurons:	n/a	chr6:46293305-46293319 chr6:46294013-46294022
3	TCF7L2	chr6:46293256-46294038	HEK293	kidney:	n/a	chr6:46293484-46293498
4	KAP1	chr6:46293112-46294150	HEK293	kidney:	n/a	n/a
5	POLR2A	chr6:46292966-46294191	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr6:46293187-46294312	H1-neurons	neurons:	n/a	n/a

Variant related genes	Relation type
RCAN2	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1372570	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1442212	1.00[AMR][1000 genomes]
rs1442214	1.00[AMR][1000 genomes]
rs56893394	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57387297	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7766177	1.00[AMR][1000 genomes]
rs7772923	1.00[AMR][1000 genomes]
rs9463200	1.00[AMR][1000 genomes]
rs9472735	1.00[AMR][1000 genomes]

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	nsv830653	chr6:46277573-46434991	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:46283400-46295600	Weak transcription	Pancreas	Pancrea
2	chr6:46290400-46294000	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr6:46290600-46297600	Enhancers	Rectal Smooth Muscle	rectum
4	chr6:46290800-46294200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr6:46291000-46294200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr6:46291200-46295800	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr6:46291400-46294000	Active TSS	Brain Cingulate Gyrus	brain
8	chr6:46291800-46294200	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr6:46292000-46294800	Enhancers	Fetal Brain Male	brain
10	chr6:46292000-46297800	Enhancers	Fetal Lung	lung
11	chr6:46292200-46294200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr6:46292200-46294600	Weak transcription	Aorta	Aorta
13	chr6:46292600-46294000	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr6:46292800-46294200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:46293000-46294000	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:46293000-46294200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr6:46293000-46294200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr6:46293000-46294200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:46293000-46294200	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr6:46293000-46294200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr6:46293000-46294200	Flanking Active TSS	NHDF-Ad	bronchial
22	chr6:46293000-46294600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:46293200-46294000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:46293200-46294000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:46293200-46294000	Enhancers	Osteobl	bone
26	chr6:46293200-46294200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr6:46293200-46294200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:46293200-46294200	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:46293200-46294200	Enhancers	Primary T cells from cord blood	blood
30	chr6:46293200-46294200	Enhancers	Ovary	ovary
31	chr6:46293200-46294200	Enhancers	Right Ventricle	heart
32	chr6:46293400-46294000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr6:46293400-46294000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr6:46293400-46294000	Enhancers	Adipose Nuclei	Adipose
35	chr6:46293400-46294200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr6:46293400-46294200	Enhancers	Left Ventricle	heart
37	chr6:46293400-46294200	Enhancers	Right Atrium	heart
38	chr6:46293600-46294000	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr6:46293600-46294000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:46293600-46294000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:46293600-46294000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr6:46293600-46294000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:46293600-46294000	Enhancers	Primary B cells from peripheral blood	blood
44	chr6:46293600-46294000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:46293600-46294000	Enhancers	Colon Smooth Muscle	Colon
46	chr6:46293600-46294200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr6:46293600-46294200	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr6:46293600-46294200	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr6:46293600-46294200	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr6:46293600-46294200	Enhancers	Fetal Muscle Leg	muscle

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