Variant report

Variant	rs12344815
Chromosome Location	chr9:136752936-136752937
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136751417..136753279-chr9:136756249..136759158,2	K562	blood:
2	chr9:136742442..136743998-chr9:136752245..136754338,2	K562	blood:
3	chr9:136751034..136753056-chr9:136851311..136853643,2	MCF-7	breast:
4	chr9:136744004..136756386-chr9:136850728..136860313,29	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160293	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12340849	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28377870	1.00[AMR][1000 genomes]
rs28625496	1.00[AMR][1000 genomes]
rs57077614	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv894122	chr9:136632662-136760639	Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS 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	nsv1035272	chr9:136665308-136772256	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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

No data

Chromatin state (count:76 , 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	chr9:136729800-136762600	Weak transcription	Right Ventricle	heart
3	chr9:136736000-136760000	Weak transcription	Primary B cells from cord blood	blood
4	chr9:136736800-136756200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:136740000-136754800	Weak transcription	Osteobl	bone
6	chr9:136740200-136757400	Weak transcription	Duodenum Mucosa	Duodenum
7	chr9:136741800-136753000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr9:136741800-136753200	Weak transcription	A549	lung
9	chr9:136744000-136755200	Enhancers	Fetal Muscle Leg	muscle
10	chr9:136744600-136753000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:136745600-136754600	Weak transcription	Hela-S3	cervix
12	chr9:136745800-136755600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr9:136747200-136753600	Weak transcription	Stomach Mucosa	stomach
14	chr9:136747600-136753200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:136747600-136753400	Enhancers	Fetal Muscle Trunk	muscle
16	chr9:136747600-136753600	Weak transcription	NHLF	lung
17	chr9:136747600-136754800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr9:136747600-136780800	Weak transcription	Right Atrium	heart
19	chr9:136747800-136753000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr9:136747800-136753000	Weak transcription	NH-A	brain
21	chr9:136747800-136753200	Weak transcription	Brain Substantia Nigra	brain
22	chr9:136748200-136753200	Weak transcription	Brain Anterior Caudate	brain
23	chr9:136748200-136762200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr9:136748400-136753000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr9:136748400-136753200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr9:136748400-136758000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr9:136748600-136753000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr9:136748600-136753000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr9:136748800-136753200	Weak transcription	Brain Hippocampus Middle	brain
30	chr9:136748800-136770600	Weak transcription	Esophagus	oesophagus
31	chr9:136749000-136753600	Weak transcription	HSMM	muscle
32	chr9:136749200-136756000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:136749400-136753400	Weak transcription	NHEK	skin
34	chr9:136749600-136753000	Weak transcription	HMEC	breast
35	chr9:136749600-136756000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr9:136749800-136756000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr9:136750000-136753800	Flanking Active TSS	HepG2	liver
38	chr9:136750000-136756200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:136750600-136753400	Weak transcription	Primary B cells from peripheral blood	blood
40	chr9:136750600-136754400	Weak transcription	HSMMtube	muscle
41	chr9:136750600-136755600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:136750800-136753000	Weak transcription	Lung	lung
43	chr9:136750800-136753400	Weak transcription	Fetal Lung	lung
44	chr9:136750800-136756400	Enhancers	Liver	Liver
45	chr9:136751000-136755400	Weak transcription	Spleen	Spleen
46	chr9:136751000-136756000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr9:136751200-136753800	Weak transcription	Gastric	stomach
48	chr9:136751200-136754400	Enhancers	Fetal Thymus	thymus
49	chr9:136751200-136755800	Genic enhancers	Fetal Intestine Small	intestine
50	chr9:136751200-136756000	Enhancers	H1 Cell Line	embryonic stem cell

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