Variant report

Variant	rs7997101
Chromosome Location	chr13:76334818-76334819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:76334449..76335189-chr15:65588194..65588821,2	Hela-S3	cervix:
2	chr13:76334345..76334921-chr5:1633791..1634398,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000199568	Chromatin interaction
ENSG00000188002	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs530855	0.82[EUR][1000 genomes]
rs539514	0.81[EUR][1000 genomes]
rs625755	0.81[EUR][1000 genomes]
rs658746	0.85[CEU][hapmap]
rs660942	0.82[CEU][hapmap]
rs7320216	0.84[GIH][hapmap];0.81[LWK][hapmap];0.81[MKK][hapmap];0.83[YRI][hapmap]
rs7324230	0.91[JPT][hapmap]
rs7991448	0.84[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76308200-76345200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:76323800-76336600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr13:76323800-76356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:76324000-76335200	Weak transcription	NH-A	brain
5	chr13:76325200-76335200	Weak transcription	Ovary	ovary
6	chr13:76329200-76335600	Weak transcription	Primary B cells from cord blood	blood
7	chr13:76332000-76336600	Weak transcription	Small Intestine	intestine
8	chr13:76333600-76338800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr13:76333800-76335000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:76333800-76335400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:76333800-76337800	Active TSS	Rectal Smooth Muscle	rectum
12	chr13:76334000-76335000	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr13:76334000-76335000	Enhancers	Placenta	Placenta
14	chr13:76334000-76335600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr13:76334000-76336600	Weak transcription	Gastric	stomach
16	chr13:76334200-76335000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr13:76334200-76335000	Active TSS	HepG2	liver
18	chr13:76334200-76335600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr13:76334200-76338200	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr13:76334200-76338400	Active TSS	Duodenum Mucosa	Duodenum
21	chr13:76334400-76335000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:76334400-76335000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr13:76334400-76335000	Flanking Active TSS	Liver	Liver
24	chr13:76334400-76335000	Active TSS	Left Ventricle	heart
25	chr13:76334400-76335200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr13:76334400-76335200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr13:76334400-76335200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr13:76334400-76335200	Weak transcription	Stomach Mucosa	stomach
29	chr13:76334400-76335200	Flanking Active TSS	HMEC	breast
30	chr13:76334400-76335200	Flanking Active TSS	NHEK	skin
31	chr13:76334400-76335400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr13:76334400-76335800	Active TSS	Fetal Muscle Trunk	muscle
33	chr13:76334400-76336600	Active TSS	Fetal Kidney	kidney
34	chr13:76334400-76337000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:76334400-76337200	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr13:76334400-76337400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr13:76334400-76338200	Active TSS	Hela-S3	cervix
38	chr13:76334400-76338800	Active TSS	Right Ventricle	heart
39	chr13:76334400-76339600	Active TSS	Fetal Brain Female	brain
40	chr13:76334600-76335000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr13:76334600-76335000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr13:76334600-76335000	Active TSS	Brain Angular Gyrus	brain
43	chr13:76334600-76335000	Active TSS	Brain Hippocampus Middle	brain
44	chr13:76334600-76335000	Enhancers	Colon Smooth Muscle	Colon
45	chr13:76334600-76335000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr13:76334600-76335000	Active TSS	Esophagus	oesophagus
47	chr13:76334600-76335000	Flanking Active TSS	Fetal Brain Male	brain
48	chr13:76334600-76335000	Flanking Active TSS	Fetal Lung	lung
49	chr13:76334600-76335000	Active TSS	Lung	lung
50	chr13:76334600-76335000	Active TSS	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links