Variant report

Variant	rs12345675
Chromosome Location	chr9:101901162-101901163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:101894017..101896453-chr9:101898927..101901266,2	K562	blood:
2	chr9:101764789..101766455-chr9:101899453..101902305,3	K562	blood:
3	chr9:101899920..101901969-chr9:101905038..101907406,2	K562	blood:
4	chr9:101747587..101749233-chr9:101899420..101901955,2	K562	blood:
5	chr9:101869195..101872022-chr9:101900402..101902081,2	K562	blood:
6	chr9:101898800..101901227-chr9:101901633..101903156,2	K562	blood:
7	chr9:101608345..101611118-chr9:101900740..101903316,2	MCF-7	breast:
8	chr9:101875608..101878128-chr9:101899514..101901966,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000119514	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1013186	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10283455	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10448292	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10739779	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10760669	0.90[AFR][1000 genomes]
rs10760674	0.86[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10819637	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10819638	0.81[AFR][1000 genomes]
rs10819639	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10988703	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10988714	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10988723	0.96[EUR][1000 genomes]
rs13286149	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1571590	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1590	0.86[EUR][1000 genomes]
rs1973518	0.88[EUR][1000 genomes]
rs334348	0.87[EUR][1000 genomes]
rs334349	0.85[EUR][1000 genomes]
rs334350	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334351	0.91[EUR][1000 genomes]
rs334353	0.93[EUR][1000 genomes]
rs334356	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334357	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334358	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs334366	0.89[EUR][1000 genomes]
rs334368	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs334369	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs383496	0.85[EUR][1000 genomes]
rs385057	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs420549	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs478061	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042852	0.95[EUR][1000 genomes]
rs7874221	0.88[AFR][1000 genomes]
rs789675	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs868	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[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	nsv893619	chr9:101835165-101936231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv831666	chr9:101874985-102018690	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv1792736	chr9:101891126-101909372	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101870000-101908600	Weak transcription	Brain Germinal Matrix	brain
2	chr9:101876600-101904200	Weak transcription	Liver	Liver
3	chr9:101878800-101903200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr9:101882200-101901400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr9:101882200-101903000	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:101885200-101901600	Weak transcription	A549	lung
7	chr9:101888200-101907000	Weak transcription	HepG2	liver
8	chr9:101889400-101904000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr9:101889800-101904400	Weak transcription	Lung	lung
10	chr9:101890000-101914200	Weak transcription	Pancreas	Pancrea
11	chr9:101890200-101904800	Weak transcription	Fetal Intestine Large	intestine
12	chr9:101890200-101907600	Weak transcription	Gastric	stomach
13	chr9:101890400-101908400	Weak transcription	Hela-S3	cervix
14	chr9:101890600-101901600	Weak transcription	Fetal Lung	lung
15	chr9:101890600-101907000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr9:101890600-101908800	Weak transcription	Right Ventricle	heart
17	chr9:101890800-101903600	Weak transcription	Right Atrium	heart
18	chr9:101891400-101903600	Weak transcription	Dnd41	blood
19	chr9:101892400-101902600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:101892600-101902800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr9:101892600-101914200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:101892800-101905800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr9:101892800-101921000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr9:101893000-101902800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr9:101893000-101904200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr9:101893200-101901400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr9:101893800-101902600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr9:101894200-101906800	Weak transcription	Fetal Kidney	kidney
29	chr9:101894200-101907600	Weak transcription	HUVEC	blood vessel
30	chr9:101895000-101907200	Weak transcription	Spleen	Spleen
31	chr9:101895000-101914200	Weak transcription	Esophagus	oesophagus
32	chr9:101895200-101903800	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:101895400-101904200	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr9:101895800-101902800	Weak transcription	Fetal Heart	heart
35	chr9:101897000-101902600	Weak transcription	HSMMtube	muscle
36	chr9:101897600-101907400	Weak transcription	HMEC	breast
37	chr9:101897600-101913400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr9:101897600-101915400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr9:101897800-101902600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr9:101897800-101903800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr9:101897800-101906800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr9:101898000-101902800	Weak transcription	Colon Smooth Muscle	Colon
43	chr9:101898000-101903200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr9:101898000-101904800	Weak transcription	Fetal Brain Female	brain
45	chr9:101898000-101905400	Weak transcription	NH-A	brain
46	chr9:101898000-101907000	Weak transcription	NHLF	lung
47	chr9:101898000-101907200	Weak transcription	Small Intestine	intestine
48	chr9:101898000-101907400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:101898000-101907400	Weak transcription	Brain Angular Gyrus	brain
50	chr9:101898000-101907400	Weak transcription	Brain Hippocampus Middle	brain

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