Variant report

Variant	rs11981235
Chromosome Location	chr7:12758408-12758409
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12752442..12758611-chr7:12777091..12782449,9	K562	blood:
2	chr7:12442384..12444889-chr7:12757072..12759296,2	K562	blood:
3	chr7:12757666..12759532-chr7:12853077..12856020,2	K562	blood:
4	chr7:12730040..12735403-chr7:12757431..12760673,6	K562	blood:

Variant related genes	Relation type
ENSG00000146530	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10488229	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10950412	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11981294	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546770	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4410798	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4719328	0.88[JPT][hapmap]
rs6949140	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6967467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785696	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801894	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv887641	chr7:12747443-12782062	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12754800-12760400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr7:12755400-12758600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr7:12755400-12761800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:12755600-12761800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:12755800-12758600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:12755800-12759600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr7:12755800-12763000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr7:12756000-12759000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr7:12756200-12758600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:12756200-12758600	Weak transcription	Lung	lung
11	chr7:12756200-12758600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr7:12756200-12758800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:12756200-12759800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:12756200-12759800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr7:12756200-12760200	Weak transcription	Esophagus	oesophagus
16	chr7:12756200-12761800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:12756200-12768800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:12756400-12758600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:12756400-12762200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr7:12756400-12762400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:12756400-12770800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr7:12756600-12758600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr7:12756600-12758600	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr7:12756600-12758800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:12756600-12758800	Weak transcription	Fetal Stomach	stomach
26	chr7:12756600-12758800	Weak transcription	Stomach Mucosa	stomach
27	chr7:12756600-12759000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:12756600-12759000	Weak transcription	Brain Hippocampus Middle	brain
29	chr7:12756600-12770800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr7:12756800-12758600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:12756800-12758600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:12756800-12758600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr7:12756800-12758600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr7:12756800-12758600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:12756800-12758600	Weak transcription	Fetal Intestine Small	intestine
36	chr7:12756800-12758600	Weak transcription	Fetal Muscle Leg	muscle
37	chr7:12756800-12758600	Weak transcription	Left Ventricle	heart
38	chr7:12756800-12758600	Weak transcription	Small Intestine	intestine
39	chr7:12756800-12761800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:12756800-12762200	Weak transcription	Fetal Kidney	kidney
41	chr7:12756800-12766000	Weak transcription	Right Ventricle	heart
42	chr7:12756800-12766800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:12757000-12758800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr7:12757200-12758600	Weak transcription	Right Atrium	heart
45	chr7:12757400-12758600	Enhancers	Hela-S3	cervix
46	chr7:12757800-12758600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr7:12757800-12759000	Enhancers	Fetal Thymus	thymus
48	chr7:12757800-12760400	Enhancers	Placenta	Placenta
49	chr7:12758000-12760600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr7:12758000-12770800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links