Variant report

Variant	rs2519793
Chromosome Location	chr9:136775141-136775142
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136748034..136750823-chr9:136772544..136775490,4	MCF-7	breast:
2	chr9:136774078..136776587-chr9:136779650..136781604,3	MCF-7	breast:
3	chr9:136737792..136741016-chr9:136774631..136778412,3	MCF-7	breast:
4	chr9:136768403..136772752-chr9:136773070..136776538,4	K562	blood:
5	chr9:136772619..136776422-chr9:136776725..136781488,5	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2519795	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2519990	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2789824	0.81[AFR][1000 genomes]
rs2789825	0.83[AFR][1000 genomes]
rs2789826	0.83[AFR][1000 genomes]
rs2789827	0.90[AMR][1000 genomes]
rs4744536	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894114	chr9:136538798-136779153	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv831745	chr9:136593702-136780273	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv894126	chr9:136747832-136779153	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	nsv894129	chr9:136754076-136779153	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136729600-136780000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr9:136747600-136780800	Weak transcription	Right Atrium	heart
3	chr9:136753000-136813200	Weak transcription	Aorta	Aorta
4	chr9:136755600-136776000	Weak transcription	NHEK	skin
5	chr9:136758200-136779000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr9:136758400-136778800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:136758400-136781000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr9:136758800-136780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr9:136763200-136780800	Weak transcription	Hela-S3	cervix
10	chr9:136763400-136775400	Weak transcription	Liver	Liver
11	chr9:136765800-136797200	Weak transcription	HSMMtube	muscle
12	chr9:136766600-136784400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr9:136767200-136776400	Weak transcription	Stomach Mucosa	stomach
14	chr9:136767200-136777000	Weak transcription	Primary B cells from cord blood	blood
15	chr9:136768400-136778200	Weak transcription	Primary B cells from peripheral blood	blood
16	chr9:136770000-136776200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr9:136770200-136777000	Weak transcription	GM12878-XiMat	blood
18	chr9:136770200-136779000	Weak transcription	HSMM	muscle
19	chr9:136770800-136777200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr9:136770800-136777200	Weak transcription	HepG2	liver
21	chr9:136771000-136780800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr9:136772000-136776000	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr9:136772600-136775200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:136772600-136776000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr9:136772600-136776000	Weak transcription	Esophagus	oesophagus
26	chr9:136772600-136778800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr9:136772600-136782200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr9:136772800-136775400	Weak transcription	Fetal Stomach	stomach
29	chr9:136772800-136776000	Weak transcription	Adipose Nuclei	Adipose
30	chr9:136772800-136776000	Weak transcription	HMEC	breast
31	chr9:136772800-136776600	Weak transcription	Fetal Lung	lung
32	chr9:136772800-136778000	Weak transcription	Brain Hippocampus Middle	brain
33	chr9:136772800-136779200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr9:136772800-136780000	Weak transcription	NHLF	lung
35	chr9:136772800-136780400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:136773000-136777600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr9:136773200-136777600	Enhancers	Pancreas	Pancrea
38	chr9:136773400-136775200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr9:136773400-136776200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:136773400-136777200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:136773400-136778000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:136773400-136779000	Weak transcription	Brain Substantia Nigra	brain
43	chr9:136773600-136778600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr9:136773600-136779200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:136774000-136776000	Strong transcription	Fetal Intestine Small	intestine
46	chr9:136774000-136776200	Weak transcription	Brain Germinal Matrix	brain
47	chr9:136774000-136776200	Weak transcription	Duodenum Mucosa	Duodenum
48	chr9:136774000-136777000	Weak transcription	Fetal Brain Female	brain
49	chr9:136774000-136777800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr9:136774000-136778600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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