Variant report

Variant	rs12000484
Chromosome Location	chr9:136781111-136781112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136774078..136776587-chr9:136779650..136781604,3	MCF-7	breast:
2	chr9:136772619..136776422-chr9:136776725..136781488,5	K562	blood:
3	chr9:136737105..136739674-chr9:136778546..136781444,2	MCF-7	breast:
4	chr9:136757643..136759941-chr9:136779061..136782245,3	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2789833	1.00[EUR][1000 genomes]
rs2789834	1.00[EUR][1000 genomes]
rs58213861	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73550707	1.00[EUR][1000 genomes]
rs73550709	1.00[EUR][1000 genomes]
rs73550712	1.00[EUR][1000 genomes]
rs73550715	1.00[EUR][1000 genomes]
rs73550720	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73550727	1.00[EUR][1000 genomes]
rs73662342	1.00[EUR][1000 genomes]
rs73662347	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894123	chr9:136682408-136852501	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv894124	chr9:136716399-136870787	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv894125	chr9:136723520-136931957	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv894127	chr9:136747832-136811772	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1832030	chr9:136753246-136785840	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv1829795	chr9:136753246-136787253	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv894128	chr9:136753246-136906752	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv615739	chr9:136761938-136790282	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv466625	chr9:136762800-136787972	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv615740	chr9:136762800-136787972	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1046310	chr9:136762829-136872226	Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv894130	chr9:136767346-136906752	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	esv3422697	chr9:136778731-136783129	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136753000-136813200	Weak transcription	Aorta	Aorta
2	chr9:136765800-136797200	Weak transcription	HSMMtube	muscle
3	chr9:136766600-136784400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr9:136772600-136782200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:136774800-136802000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:136777000-136783200	Enhancers	Fetal Brain Female	brain
7	chr9:136777000-136786200	Weak transcription	NHEK	skin
8	chr9:136777600-136781800	Enhancers	Liver	Liver
9	chr9:136777600-136786400	Weak transcription	Primary B cells from cord blood	blood
10	chr9:136777800-136781200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr9:136777800-136796600	Weak transcription	HUVEC	blood vessel
12	chr9:136778000-136781600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr9:136778000-136785800	Enhancers	Fetal Muscle Leg	muscle
14	chr9:136778000-136791200	Weak transcription	GM12878-XiMat	blood
15	chr9:136778400-136781400	Enhancers	Lung	lung
16	chr9:136778600-136782400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:136778600-136786400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:136778800-136782000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr9:136778800-136783800	Enhancers	Fetal Intestine Large	intestine
20	chr9:136778800-136785200	Genic enhancers	Fetal Intestine Small	intestine
21	chr9:136779000-136781400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr9:136779000-136781600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr9:136779000-136782400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:136779200-136783800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:136779400-136781600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:136779400-136782000	Weak transcription	Fetal Stomach	stomach
27	chr9:136779400-136784800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr9:136779400-136785600	Enhancers	Placenta	Placenta
29	chr9:136779600-136783200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr9:136780000-136781200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr9:136780000-136781200	Enhancers	Spleen	Spleen
32	chr9:136780000-136781200	Enhancers	NHDF-Ad	bronchial
33	chr9:136780000-136781400	Enhancers	Primary B cells from peripheral blood	blood
34	chr9:136780000-136781400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:136780000-136783400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr9:136780000-136783800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:136780200-136781400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr9:136780200-136781400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
39	chr9:136780200-136782000	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr9:136780200-136782200	Enhancers	Stomach Mucosa	stomach
41	chr9:136780400-136781400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr9:136780400-136781600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr9:136780400-136782600	Weak transcription	Left Ventricle	heart
44	chr9:136780600-136781200	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:136780600-136781200	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr9:136780600-136781600	Flanking Active TSS	Brain Hippocampus Middle	brain
47	chr9:136780600-136782000	Enhancers	HMEC	breast
48	chr9:136780600-136782600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:136780600-136783600	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr9:136780600-136783600	Weak transcription	Placenta Amnion	Placenta Amnion

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