Variant report

Variant	rs12004336
Chromosome Location	chr9:101010350-101010351
allele	A/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:100955094..100957753-chr9:101010315..101013161,2	MCF-7	breast:
2	chr9:100987323..100990186-chr9:101009264..101011823,2	K562	blood:
3	chr9:101010177..101013807-chr9:101023006..101027119,4	K562	blood:
4	chr9:100983664..100985681-chr9:101009334..101011944,2	MCF-7	breast:
5	chr9:101010134..101012336-chr9:101021281..101022782,2	K562	blood:
6	chr9:101007016..101010479-chr9:101012839..101014596,3	MCF-7	breast:
7	chr9:101010268..101015223-chr9:101016008..101021084,8	K562	blood:
8	chr9:100987323..100989657-chr9:101010085..101011823,2	K562	blood:
9	chr9:100954884..100956556-chr9:101008813..101010397,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000095383	Chromatin interaction
ENSG00000106789	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1469801	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16913581	1.00[CHB][hapmap]
rs16913609	1.00[CHB][hapmap]
rs16914121	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4548296	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57133157	1.00[ASN][1000 genomes]
rs57159793	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58378083	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58571777	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58885814	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59155179	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61410033	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7027479	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7041945	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73488713	1.00[ASN][1000 genomes]
rs73488720	1.00[ASN][1000 genomes]
rs73488731	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73488770	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73488782	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7856739	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7869001	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs9696111	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100968600-101010400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:100968800-101011000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr9:100974800-101010600	Weak transcription	Colon Smooth Muscle	Colon
4	chr9:100981800-101010400	Weak transcription	Fetal Thymus	thymus
5	chr9:100989600-101016000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr9:100991400-101010600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr9:100991400-101015400	Weak transcription	Brain Anterior Caudate	brain
8	chr9:100991800-101011400	Weak transcription	Right Ventricle	heart
9	chr9:100992200-101012800	Weak transcription	Brain Substantia Nigra	brain
10	chr9:100992200-101016000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:100993400-101012600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:100993600-101010400	Weak transcription	Left Ventricle	heart
13	chr9:100995000-101016600	Weak transcription	Brain Angular Gyrus	brain
14	chr9:100995400-101010400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr9:100995800-101010400	Weak transcription	Adipose Nuclei	Adipose
16	chr9:100995800-101011200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr9:100996000-101010600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr9:100996000-101010600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr9:100996000-101012400	Weak transcription	Fetal Stomach	stomach
20	chr9:100996000-101016000	Weak transcription	Pancreas	Pancrea
21	chr9:100996200-101017200	Weak transcription	Ovary	ovary
22	chr9:100996600-101010600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr9:100996600-101011200	Weak transcription	Thymus	Thymus
24	chr9:100996800-101011000	Weak transcription	Liver	Liver
25	chr9:101003800-101010400	Weak transcription	Spleen	Spleen
26	chr9:101003800-101011200	Weak transcription	Gastric	stomach
27	chr9:101004000-101010400	Weak transcription	Colonic Mucosa	Colon
28	chr9:101004000-101011000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr9:101004200-101011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr9:101004200-101015800	Weak transcription	Brain Hippocampus Middle	brain
31	chr9:101004200-101017200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr9:101004400-101010400	Weak transcription	NHLF	lung
33	chr9:101005000-101010400	Weak transcription	Primary T cells from cord blood	blood
34	chr9:101005200-101010600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:101005200-101010600	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr9:101005200-101017200	Weak transcription	Brain Germinal Matrix	brain
37	chr9:101005800-101010400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr9:101005800-101010400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr9:101006000-101010400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr9:101006400-101014000	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr9:101006600-101010400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:101006600-101010600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr9:101006600-101010600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:101006600-101010600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr9:101006600-101014000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:101006600-101016600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:101006800-101010400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr9:101006800-101010600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr9:101006800-101011400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr9:101006800-101016800	Weak transcription	H1 Cell Line	embryonic stem cell

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