Variant report

Variant	rs116615164
Chromosome Location	chr6:149771717-149771718
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	TFAP2C	chr6:149771572-149773122	Hela-S3	cervix:	n/a	n/a
2	SMARCB1	chr6:149771406-149773213	Hela-S3	cervix:	n/a	n/a
3	E2F6	chr6:149771661-149772189	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr6:149770891-149772320	GM12878	blood:	n/a	n/a
5	MAX	chr6:149771673-149772189	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr6:149770919-149771956	GM12878	blood:	n/a	n/a
7	E2F6	chr6:149771598-149772236	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr6:149771691-149772179	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:149769726..149773853-chr6:149775332..149778151,3	K562	blood:

Variant related genes	Relation type
ZC3H12D	TF binding region
ENSG00000178199	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530444	chr6:149654540-149848997	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv470866	chr6:149744632-149806552	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv5533	chr6:149748047-149793072	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv464076	chr6:149755695-149798835	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv604846	chr6:149755695-149798835	ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3355637	chr6:149769659-149774457	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv3374188	chr6:149770709-149773207	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3358166	chr6:149771284-149774132	Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 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	chr6:149766600-149773000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:149767400-149772800	Weak transcription	HepG2	liver
3	chr6:149768400-149779400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr6:149769600-149782800	Strong transcription	Primary B cells from peripheral blood	blood
5	chr6:149769600-149787200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:149769800-149779800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr6:149770000-149773000	Weak transcription	Primary B cells from cord blood	blood
8	chr6:149770000-149779600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:149770000-149785200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr6:149771000-149771800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
11	chr6:149771000-149773400	Enhancers	Fetal Heart	heart
12	chr6:149771200-149771800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr6:149771200-149771800	Bivalent Enhancer	Stomach Mucosa	stomach
14	chr6:149771200-149772000	Flanking Active TSS	Hela-S3	cervix
15	chr6:149771400-149771800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:149771400-149771800	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr6:149771400-149771800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr6:149771400-149771800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr6:149771400-149771800	Enhancers	Colon Smooth Muscle	Colon
20	chr6:149771400-149771800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
21	chr6:149771400-149771800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr6:149771400-149771800	Enhancers	Left Ventricle	heart
23	chr6:149771400-149771800	Enhancers	Ovary	ovary
24	chr6:149771400-149771800	Enhancers	Pancreas	Pancrea
25	chr6:149771400-149771800	Enhancers	Right Atrium	heart
26	chr6:149771400-149771800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr6:149771400-149772000	Flanking Active TSS	Duodenum Mucosa	Duodenum
28	chr6:149771400-149772000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
29	chr6:149771400-149772000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr6:149771400-149772000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
31	chr6:149771400-149772200	ZNF genes & repeats	Spleen	Spleen
32	chr6:149771400-149773200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
33	chr6:149771400-149773200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr6:149771400-149773400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
35	chr6:149771400-149773400	Active TSS	Rectal Smooth Muscle	rectum
36	chr6:149771600-149771800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr6:149771600-149771800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:149771600-149771800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
39	chr6:149771600-149771800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr6:149771600-149771800	Enhancers	Primary hematopoietic stem cells	blood
41	chr6:149771600-149771800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:149771600-149771800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:149771600-149771800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:149771600-149771800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr6:149771600-149771800	Enhancers	Aorta	Aorta
46	chr6:149771600-149771800	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr6:149771600-149771800	Active TSS	Brain Hippocampus Middle	brain
48	chr6:149771600-149771800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:149771600-149771800	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr6:149771600-149771800	Enhancers	Esophagus	oesophagus

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