Variant report

Variant	rs6420362
Chromosome Location	chr13:37571183-37571184
allele	C/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	POLR2A	chr13:37571049-37571232	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:37559855..37563377-chr13:37569856..37572688,4	K562	blood:
2	chr13:37570200..37576399-chr13:37580273..37587423,15	MCF-7	breast:

Variant related genes	Relation type
EXOSC8	TF binding region
ENSG00000120699	Chromatin interaction
ENSG00000102710	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1199974	1.00[YRI][hapmap]
rs1199975	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs1937759	0.86[AFR][1000 genomes]
rs2997183	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs586424	1.00[EUR][1000 genomes]
rs7991057	1.00[YRI][hapmap]
rs9315457	1.00[EUR][1000 genomes]
rs9315459	1.00[YRI][hapmap]
rs9576154	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv522336	chr13:37305641-37584838	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37524600-37572400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:37555200-37571200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr13:37559800-37571600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr13:37567400-37572000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr13:37567600-37571800	Weak transcription	Colon Smooth Muscle	Colon
6	chr13:37567600-37571800	Weak transcription	Fetal Heart	heart
7	chr13:37567600-37572000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr13:37567600-37572000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr13:37567600-37572200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr13:37567600-37572200	Weak transcription	Brain Angular Gyrus	brain
11	chr13:37567600-37572400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:37567800-37572000	Weak transcription	Brain Cingulate Gyrus	brain
13	chr13:37567800-37572000	Weak transcription	Stomach Mucosa	stomach
14	chr13:37567800-37572200	Weak transcription	Psoas Muscle	Psoas
15	chr13:37568000-37572000	Weak transcription	Fetal Kidney	kidney
16	chr13:37568200-37571200	Weak transcription	Fetal Brain Male	brain
17	chr13:37568200-37572000	Weak transcription	A549	lung
18	chr13:37568200-37572200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr13:37568200-37572200	Weak transcription	Rectal Smooth Muscle	rectum
20	chr13:37568200-37572200	Weak transcription	Right Ventricle	heart
21	chr13:37568200-37572400	Weak transcription	Gastric	stomach
22	chr13:37568200-37572600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr13:37568200-37572600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr13:37568200-37572600	Weak transcription	Aorta	Aorta
25	chr13:37568400-37571800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr13:37568400-37572000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:37568400-37572000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr13:37568400-37572200	Weak transcription	HSMMtube	muscle
29	chr13:37568600-37572400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr13:37569000-37571800	Weak transcription	Brain Germinal Matrix	brain
31	chr13:37569000-37572000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr13:37569000-37572200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr13:37569200-37571200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr13:37569200-37572200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr13:37569200-37572200	Weak transcription	Brain Hippocampus Middle	brain
36	chr13:37569200-37572200	Weak transcription	Brain Substantia Nigra	brain
37	chr13:37569200-37572200	Weak transcription	Fetal Intestine Small	intestine
38	chr13:37569200-37572200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr13:37569200-37572200	Weak transcription	Small Intestine	intestine
40	chr13:37569200-37572200	Weak transcription	Thymus	Thymus
41	chr13:37569200-37572600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr13:37569400-37571600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr13:37569400-37571600	Weak transcription	Adipose Nuclei	Adipose
44	chr13:37569400-37571800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr13:37569400-37572200	Weak transcription	Pancreas	Pancrea
46	chr13:37569400-37572200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr13:37569400-37572200	Weak transcription	Spleen	Spleen
48	chr13:37569400-37572400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr13:37569400-37572400	Weak transcription	Lung	lung
50	chr13:37569400-37572600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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