Variant report

Variant	rs2265470
Chromosome Location	chr6:146219232-146219233
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	SETDB1	chr6:146218345-146219329	U2OS	brain:	n/a	n/a
2	STAT3	chr6:146219213-146219921	MCF10A-Er-Src	breast:	n/a	chr6:146219660-146219671
3	STAT3	chr6:146219207-146219846	MCF10A-Er-Src	breast:	n/a	chr6:146219660-146219671

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:146134473..146136015-chr6:146217763..146219719,2	MCF-7	breast:

Variant related genes	Relation type
SHPRH	TF binding region
ENSG00000118496	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2246132	0.81[ASN][1000 genomes]
rs2253757	0.85[ASN][1000 genomes]
rs2265475	0.81[ASN][1000 genomes]
rs2485631	0.83[ASN][1000 genomes]
rs34541797	0.86[ASN][1000 genomes]
rs6570732	0.84[ASN][1000 genomes]
rs6900175	0.89[ASN][1000 genomes]
rs9497426	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034226	chr6:146071068-146306942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830835	chr6:146145148-146287473	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv437525	chr6:146212285-146230454	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146196600-146219600	Weak transcription	HMEC	breast
2	chr6:146197800-146219600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:146198200-146225600	Weak transcription	HSMMtube	muscle
4	chr6:146200400-146228600	Weak transcription	Pancreas	Pancrea
5	chr6:146201200-146225600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:146201200-146230400	Weak transcription	NHEK	skin
7	chr6:146201800-146219600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:146202800-146220000	Weak transcription	Thymus	Thymus
9	chr6:146203200-146219600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:146204800-146224800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr6:146206800-146219600	Weak transcription	Fetal Intestine Small	intestine
12	chr6:146207800-146240200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:146208800-146230000	Weak transcription	Colonic Mucosa	Colon
14	chr6:146210200-146219800	Weak transcription	Gastric	stomach
15	chr6:146210200-146231000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:146210400-146219600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr6:146210400-146219600	Weak transcription	Lung	lung
18	chr6:146210400-146219800	Weak transcription	Esophagus	oesophagus
19	chr6:146210400-146221600	Weak transcription	Psoas Muscle	Psoas
20	chr6:146210400-146230400	Weak transcription	NH-A	brain
21	chr6:146210400-146282000	Weak transcription	Spleen	Spleen
22	chr6:146211200-146224800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:146211600-146236000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr6:146212400-146219800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:146212800-146219600	Weak transcription	Aorta	Aorta
26	chr6:146212800-146219600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr6:146212800-146226000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:146213200-146221000	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr6:146213800-146225000	Weak transcription	Brain Substantia Nigra	brain
30	chr6:146213800-146230400	Weak transcription	HUVEC	blood vessel
31	chr6:146214600-146219600	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr6:146214800-146219600	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr6:146215000-146219600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:146215000-146219600	Weak transcription	Fetal Stomach	stomach
35	chr6:146215000-146219600	Weak transcription	Left Ventricle	heart
36	chr6:146215000-146219600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:146215000-146225800	Weak transcription	Placenta	Placenta
38	chr6:146215000-146242200	Weak transcription	Hela-S3	cervix
39	chr6:146215200-146219800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:146215200-146224600	Weak transcription	HSMM	muscle
41	chr6:146215400-146219600	Weak transcription	NHDF-Ad	bronchial
42	chr6:146215400-146222400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr6:146216200-146219600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr6:146216400-146221000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr6:146216800-146219600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:146216800-146224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:146218000-146220600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:146218400-146220000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:146218400-146220000	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr6:146218400-146220000	ZNF genes & repeats	Fetal Brain Male	brain

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