Variant report

Variant	rs12349072
Chromosome Location	chr9:136777470-136777471
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136775409..136777702-chr9:136777760..136779303,3	MCF-7	breast:
2	chr9:136727889..136730312-chr9:136777373..136780335,2	MCF-7	breast:
3	chr9:136776944..136779401-chr9:136782904..136785015,2	MCF-7	breast:
4	chr9:136772619..136776422-chr9:136776725..136781488,5	K562	blood:
5	chr9:136776480..136779233-chr9:136856676..136858268,2	MCF-7	breast:
6	chr9:136737792..136741016-chr9:136774631..136778412,3	MCF-7	breast:
7	chr9:136776206..136778622-chr9:136832322..136834607,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12349289	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2428101	0.85[EUR][1000 genomes]
rs2789824	0.94[EUR][1000 genomes]
rs2789825	1.00[EUR][1000 genomes]
rs2789826	1.00[EUR][1000 genomes]
rs2789829	1.00[EUR][1000 genomes]
rs2789835	0.88[EUR][1000 genomes]
rs2810501	1.00[EUR][1000 genomes]
rs73662338	1.00[EUR][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:63 , 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	chr9:136758200-136779000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:136758400-136778800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr9:136758400-136781000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr9:136758800-136780000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr9:136763200-136780800	Weak transcription	Hela-S3	cervix
9	chr9:136765800-136797200	Weak transcription	HSMMtube	muscle
10	chr9:136766600-136784400	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:136768400-136778200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr9:136770200-136779000	Weak transcription	HSMM	muscle
13	chr9:136771000-136780800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:136772600-136778800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr9:136772600-136782200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr9:136772800-136778000	Weak transcription	Brain Hippocampus Middle	brain
17	chr9:136772800-136779200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr9:136772800-136780000	Weak transcription	NHLF	lung
19	chr9:136772800-136780400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr9:136773000-136777600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr9:136773200-136777600	Enhancers	Pancreas	Pancrea
22	chr9:136773400-136778000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:136773400-136779000	Weak transcription	Brain Substantia Nigra	brain
24	chr9:136773600-136778600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:136773600-136779200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:136774000-136777800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr9:136774000-136778600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:136774200-136778800	Weak transcription	Fetal Intestine Large	intestine
29	chr9:136774800-136778800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr9:136774800-136802000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr9:136775200-136778000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr9:136775600-136778600	Weak transcription	Fetal Stomach	stomach
33	chr9:136776000-136777600	Enhancers	Fetal Muscle Leg	muscle
34	chr9:136776000-136777800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr9:136776200-136777600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr9:136776200-136778800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr9:136776200-136778800	Enhancers	Brain Germinal Matrix	brain
38	chr9:136776400-136777600	Enhancers	Lung	lung
39	chr9:136776600-136778800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr9:136776600-136778800	Strong transcription	Fetal Intestine Small	intestine
41	chr9:136776600-136780000	Weak transcription	Ovary	ovary
42	chr9:136776800-136780800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr9:136777000-136777600	Strong transcription	Primary B cells from cord blood	blood
44	chr9:136777000-136778000	Strong transcription	GM12878-XiMat	blood
45	chr9:136777000-136778600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr9:136777000-136779000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr9:136777000-136779400	Weak transcription	Fetal Lung	lung
48	chr9:136777000-136780000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:136777000-136780000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr9:136777000-136780000	Weak transcription	Esophagus	oesophagus

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