Variant report

Variant	rs530555404
Chromosome Location	chr6:166881209-166881210
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr6:166881140-166881290	WERI-Rb-1	eye:	n/a	n/a
2	POLR2A	chr6:166878145-166882263	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr6:166878957-166882136	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:166881013..166882996-chr6:166884544..166886077,2	K562	blood:
2	chr6:166877343..166879705-chr6:166880050..166881798,2	MCF-7	breast:

Variant related genes	Relation type
RPS6KA2-IT1	TF binding region
ENSG00000232082	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886937	chr6:166830696-166922813	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886938	chr6:166859725-166904398	Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv886939	chr6:166859725-166922813	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv886940	chr6:166881023-166895934	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166808200-166911800	Weak transcription	Psoas Muscle	Psoas
2	chr6:166824000-166901400	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:166862400-166900600	Weak transcription	Primary T cells from cord blood	blood
4	chr6:166862400-166920600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr6:166862600-166883000	Weak transcription	Aorta	Aorta
6	chr6:166862600-166883000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:166863600-166900200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:166863600-166902000	Weak transcription	Small Intestine	intestine
9	chr6:166864600-166883000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:166864800-166899800	Weak transcription	Esophagus	oesophagus
11	chr6:166867400-166892800	Weak transcription	Fetal Brain Male	brain
12	chr6:166867600-166900000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:166870400-166898400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:166871000-166901400	Weak transcription	Stomach Mucosa	stomach
15	chr6:166872000-166900400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:166872200-166900400	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:166873000-166902800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:166874200-166885200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:166874800-166903000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:166875000-166900800	Weak transcription	Fetal Heart	heart
21	chr6:166875400-166885400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr6:166875600-166884200	Strong transcription	Gastric	stomach
23	chr6:166875800-166883000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr6:166875800-166883200	Weak transcription	HMEC	breast
25	chr6:166875800-166887000	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:166875800-166894000	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr6:166876000-166883800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:166876000-166885000	Strong transcription	Right Ventricle	heart
29	chr6:166876000-166888800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:166876000-166901400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr6:166876200-166886600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr6:166877000-166885200	Strong transcription	Spleen	Spleen
33	chr6:166877200-166904400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr6:166877200-166908800	Weak transcription	Colonic Mucosa	Colon
35	chr6:166877400-166883800	Strong transcription	Brain Germinal Matrix	brain
36	chr6:166877600-166885200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:166877800-166881800	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr6:166878200-166902000	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr6:166879000-166881400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:166879000-166900600	Weak transcription	Primary B cells from cord blood	blood
41	chr6:166879200-166881400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:166879400-166881800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:166879400-166882000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:166879400-166882800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:166879400-166883600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:166879400-166883600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:166879600-166883600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr6:166879800-166891400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr6:166880200-166883000	Weak transcription	HUVEC	blood vessel
50	chr6:166880200-166883800	Strong transcription	Lung	lung

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