Variant report

Variant	rs7997595
Chromosome Location	chr13:110430768-110430769
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:110404473..110407455-chr13:110429957..110432658,3	K562	blood:
2	chr13:110430383..110434613-chr13:110438487..110441138,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185950	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1414318	0.80[EUR][1000 genomes]
rs1832094	0.80[EUR][1000 genomes]
rs1865434	0.88[CHB][hapmap]
rs2099435	0.88[CHB][hapmap]
rs2241745	0.89[CHB][hapmap]
rs7984010	0.88[CHB][hapmap]
rs7987237	0.88[CHB][hapmap]
rs9301411	0.82[EUR][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	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv826789	chr13:110387268-110473524	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv826790	chr13:110395165-110463032	Weak transcription Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv826791	chr13:110397733-110462553	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv826792	chr13:110398678-110462209	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv1047427	chr13:110412864-110446417	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv826793	chr13:110423187-110448628	Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	nsv826794	chr13:110424916-110448628	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a
9	nsv826795	chr13:110425465-110448628	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110401800-110430800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:110409000-110431200	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr13:110413600-110430800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr13:110416000-110430800	Weak transcription	Fetal Kidney	kidney
5	chr13:110417000-110432400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr13:110417200-110431600	Weak transcription	Fetal Muscle Leg	muscle
7	chr13:110423000-110433400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:110423200-110433200	Weak transcription	Gastric	stomach
9	chr13:110423600-110431000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr13:110424800-110430800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:110424800-110431000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:110424800-110433200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:110425000-110430800	Weak transcription	Lung	lung
14	chr13:110425000-110431000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr13:110425000-110431400	Weak transcription	Placenta	Placenta
16	chr13:110425000-110432000	Weak transcription	Fetal Stomach	stomach
17	chr13:110425000-110433400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:110425000-110433400	Weak transcription	Esophagus	oesophagus
19	chr13:110425000-110433400	Weak transcription	Pancreas	Pancrea
20	chr13:110425000-110433400	Weak transcription	Spleen	Spleen
21	chr13:110425400-110432600	Weak transcription	Fetal Intestine Small	intestine
22	chr13:110428200-110433400	Active TSS	Right Ventricle	heart
23	chr13:110428600-110431800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr13:110428600-110434200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr13:110428800-110430800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr13:110428800-110430800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr13:110428800-110431200	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr13:110428800-110431400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr13:110428800-110431400	Enhancers	Dnd41	blood
30	chr13:110428800-110431600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:110428800-110433600	Enhancers	Fetal Heart	heart
32	chr13:110428800-110437800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
33	chr13:110429000-110430800	Enhancers	Primary T cells from cord blood	blood
34	chr13:110429000-110430800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr13:110429000-110431400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:110429000-110431400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr13:110429000-110431400	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr13:110429000-110431600	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr13:110429000-110432000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr13:110429200-110430800	Active TSS	Right Atrium	heart
41	chr13:110429400-110430800	Enhancers	Primary B cells from cord blood	blood
42	chr13:110429600-110431400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr13:110429600-110431400	Active TSS	Psoas Muscle	Psoas
44	chr13:110429600-110431600	Active TSS	Left Ventricle	heart
45	chr13:110429600-110431600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr13:110429600-110433400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr13:110429800-110430800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr13:110429800-110431000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr13:110429800-110431000	Enhancers	Stomach Mucosa	stomach
50	chr13:110430000-110430800	Flanking Active TSS	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links