Variant report

Variant	rs12685443
Chromosome Location	chr9:101004462-101004463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100993462..100999076-chr9:101001061..101006420,6	MCF-7	breast:
2	chr9:101000479..101004519-chr9:101004686..101007074,4	MCF-7	breast:
3	chr9:101001085..101005688-chr9:101016159..101020159,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224001	Chromatin interaction
ENSG00000095383	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12349672	0.96[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12551379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12552446	0.81[ASN][1000 genomes]
rs12553553	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12683816	0.96[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs41283620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7037857	0.81[ASN][1000 genomes]
rs962220	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
5	esv1810342	chr9:100995758-101006339	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
6	esv1807264	chr9:101000545-101006339	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
7	esv1810101	chr9:101000545-101006339	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

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	chr9:100969400-101004800	Weak transcription	Brain Germinal Matrix	brain
4	chr9:100974800-101010600	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:100980200-101010200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr9:100981800-101010400	Weak transcription	Fetal Thymus	thymus
7	chr9:100982800-101004600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr9:100983000-101007200	Weak transcription	Fetal Brain Male	brain
9	chr9:100983400-101006200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:100986000-101006200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr9:100989600-101006400	Weak transcription	Psoas Muscle	Psoas
12	chr9:100989600-101016000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr9:100991400-101006200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr9:100991400-101006200	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr9:100991400-101006400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr9:100991400-101010600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:100991400-101015400	Weak transcription	Brain Anterior Caudate	brain
18	chr9:100991800-101011400	Weak transcription	Right Ventricle	heart
19	chr9:100992200-101012800	Weak transcription	Brain Substantia Nigra	brain
20	chr9:100992200-101016000	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:100992800-101006200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr9:100993200-101010200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr9:100993400-101012600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:100993600-101006000	Weak transcription	Stomach Mucosa	stomach
25	chr9:100993600-101010400	Weak transcription	Left Ventricle	heart
26	chr9:100995000-101016600	Weak transcription	Brain Angular Gyrus	brain
27	chr9:100995200-101006400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr9:100995200-101010200	Weak transcription	NHDF-Ad	bronchial
29	chr9:100995400-101010400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr9:100995800-101006200	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr9:100995800-101006200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:100995800-101010400	Weak transcription	Adipose Nuclei	Adipose
33	chr9:100995800-101011200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr9:100996000-101006000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr9:100996000-101006200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:100996000-101006200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr9:100996000-101010600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr9:100996000-101010600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr9:100996000-101012400	Weak transcription	Fetal Stomach	stomach
40	chr9:100996000-101016000	Weak transcription	Pancreas	Pancrea
41	chr9:100996200-101004800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr9:100996200-101017200	Weak transcription	Ovary	ovary
43	chr9:100996600-101010600	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr9:100996600-101011200	Weak transcription	Thymus	Thymus
45	chr9:100996800-101006800	Strong transcription	Osteobl	bone
46	chr9:100996800-101011000	Weak transcription	Liver	Liver
47	chr9:100997200-101008800	Weak transcription	Aorta	Aorta
48	chr9:100999400-101004800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr9:100999400-101004800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr9:100999600-101008400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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