Variant report

Variant	rs6732422
Chromosome Location	chr2:113347600-113347601
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	chr2:113346825..113348931-chr2:113402265..113404788,2	MCF-7	breast:
2	chr2:113345940..113348650-chr2:113401824..113404479,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237753	Chromatin interaction
ENSG00000144136	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3748024	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874877	chr2:113287964-113382054	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
2	nsv458997	chr2:113313794-113431092	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv582708	chr2:113313794-113431092	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6732422	TTL	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113343000-113348600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:113343000-113348800	Genic enhancers	Fetal Muscle Leg	muscle
3	chr2:113343000-113349400	Enhancers	Pancreas	Pancrea
4	chr2:113343000-113350000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:113343200-113348400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:113343200-113349000	Weak transcription	Colonic Mucosa	Colon
7	chr2:113343200-113353000	Weak transcription	NH-A	brain
8	chr2:113343200-113357400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:113343200-113357400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:113343200-113357400	Weak transcription	A549	lung
11	chr2:113343200-113357400	Weak transcription	HMEC	breast
12	chr2:113343200-113357400	Weak transcription	NHDF-Ad	bronchial
13	chr2:113343400-113349600	Strong transcription	Primary T cells from cord blood	blood
14	chr2:113343400-113357400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr2:113343600-113347600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr2:113343600-113348400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:113343600-113348800	Strong transcription	Fetal Stomach	stomach
18	chr2:113343600-113349000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:113343600-113349400	Strong transcription	Fetal Intestine Large	intestine
20	chr2:113343600-113357400	Weak transcription	K562	blood
21	chr2:113343600-113357600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:113343800-113347600	Strong transcription	Stomach Smooth Muscle	stomach
23	chr2:113343800-113347800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr2:113343800-113348600	Strong transcription	Fetal Thymus	thymus
25	chr2:113343800-113348800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:113343800-113348800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:113343800-113348800	Strong transcription	Fetal Intestine Small	intestine
28	chr2:113343800-113349000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr2:113343800-113349400	Strong transcription	Thymus	Thymus
30	chr2:113343800-113349600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:113343800-113357600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:113344000-113347600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr2:113344000-113348800	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr2:113344000-113349000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:113344000-113349000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr2:113344000-113349000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:113344000-113349000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:113344000-113349400	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:113344200-113348600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:113344200-113348600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:113344200-113360800	Weak transcription	Fetal Brain Male	brain
42	chr2:113344400-113347600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:113344400-113347600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:113344400-113348800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:113344400-113350000	Weak transcription	Esophagus	oesophagus
46	chr2:113344800-113349200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:113344800-113349600	Strong transcription	Primary B cells from cord blood	blood
48	chr2:113344800-113350000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr2:113344800-113357600	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:113345000-113350000	Strong transcription	Primary T cells fromperipheralblood	blood

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