Variant report

Variant	rs191363716
Chromosome Location	chr6:56954245-56954246
allele	G/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	NR2F2	chr6:56954064-56955216	K562	blood:	n/a	chr6:56954199-56954214
2	MEF2A	chr6:56954038-56954405	K562	blood:	n/a	chr6:56954219-56954240 chr6:56954221-56954236 chr6:56954223-56954234 chr6:56954224-56954233 chr6:56954221-56954237 chr6:56954217-56954238 chr6:56954222-56954236 chr6:56954220-56954236 chr6:56954217-56954238
3	HCFC1	chr6:56954212-56955189	Hela-S3	cervix:	n/a	n/a
4	GATA1	chr6:56953499-56955181	PBDE	blood:	n/a	chr6:56954751-56954761 chr6:56953627-56953637
5	RCOR1	chr6:56954120-56955180	IMR90	lung:	n/a	n/a
6	CHD1	chr6:56954143-56955164	IMR90	lung:	n/a	n/a
7	TBL1XR1	chr6:56954108-56955050	K562	blood:	n/a	n/a
8	NR2F2	chr6:56954208-56955118	K562	blood:	n/a	n/a
9	REST	chr6:56954169-56955171	H1-neurons	neurons:	n/a	chr6:56954712-56954725
10	EP300	chr6:56954026-56955092	K562	blood:	n/a	chr6:56954833-56954846 chr6:56954531-56954545 chr6:56954278-56954292
11	GATA1	chr6:56954196-56954867	PBDEFetal	blood:	n/a	chr6:56954751-56954761
12	MXI1	chr6:56954239-56955185	IMR90	lung:	n/a	n/a
13	TEAD4	chr6:56954174-56955149	K562	blood:	n/a	n/a
14	PML	chr6:56954216-56955185	GM12878	blood:	n/a	chr6:56954843-56954851
15	ZNF274	chr6:56954079-56954869	K562	blood:	n/a	n/a
16	TAL1	chr6:56954206-56955108	K562	blood:	n/a	n/a
17	MEF2A	chr6:56953842-56954912	K562	blood:	n/a	chr6:56954219-56954240 chr6:56954221-56954236 chr6:56954223-56954234 chr6:56954224-56954233 chr6:56954221-56954237 chr6:56954217-56954238 chr6:56954222-56954236 chr6:56954220-56954236 chr6:56954217-56954238

No.	Distal block	Cell Line	Cell type
1	chr6:56954167..56956467-chr6:57034197..57037095,2	K562	blood:
2	chr6:56818718..56821144-chr6:56954189..56956169,2	MCF-7	breast:
3	chr6:56948909..56950719-chr6:56952712..56954669,2	K562	blood:
4	chr6:56952370..56954266-chr6:56971549..56974496,2	K562	blood:
5	chr6:56951936..56954342-chr6:57037762..57039413,2	K562	blood:

Variant related genes	Relation type
ZNF451	TF binding region
ENSG00000226803	Chromatin interaction
ENSG00000151914	Chromatin interaction
ENSG00000151917	Chromatin interaction
ENSG00000112208	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1021651	chr6:56569444-56966319	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv538228	chr6:56569444-56966319	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv3430228	chr6:56830972-57079281	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv970717	chr6:56903957-56955783	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv885913	chr6:56910884-56954439	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	esv3374787	chr6:56912959-56955113	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv526143	chr6:56917538-56954439	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv350038	chr6:56953752-56960124	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56916800-56954400	Weak transcription	Thymus	Thymus
2	chr6:56925400-56954400	Weak transcription	Primary B cells from cord blood	blood
3	chr6:56927000-56954800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:56935200-56954800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:56939000-56954400	Weak transcription	Ovary	ovary
6	chr6:56939600-56954400	Weak transcription	Aorta	Aorta
7	chr6:56948000-56954400	Weak transcription	Psoas Muscle	Psoas
8	chr6:56952400-56954400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:56952400-56954400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:56952600-56954400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr6:56952800-56954400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:56953200-56954800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:56953800-56954400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr6:56954000-56966800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr6:56954200-56954400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr6:56954200-56954400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr6:56954200-56954400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:56954200-56954400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr6:56954200-56954400	Enhancers	Primary B cells from peripheral blood	blood
20	chr6:56954200-56954400	Enhancers	Primary T cells from cord blood	blood
21	chr6:56954200-56954400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr6:56954200-56954400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr6:56954200-56954400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:56954200-56954400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr6:56954200-56954400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr6:56954200-56954400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr6:56954200-56954400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:56954200-56954400	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr6:56954200-56954400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr6:56954200-56954400	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr6:56954200-56954400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:56954200-56954400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:56954200-56954400	Enhancers	Adipose Nuclei	Adipose
34	chr6:56954200-56954400	Enhancers	Liver	Liver
35	chr6:56954200-56954400	Enhancers	Brain Germinal Matrix	brain
36	chr6:56954200-56954400	Enhancers	Brain Substantia Nigra	brain
37	chr6:56954200-56954400	Enhancers	Colon Smooth Muscle	Colon
38	chr6:56954200-56954400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr6:56954200-56954400	Enhancers	Fetal Brain Female	brain
40	chr6:56954200-56954400	Enhancers	Fetal Intestine Large	intestine
41	chr6:56954200-56954400	Enhancers	Fetal Intestine Small	intestine
42	chr6:56954200-56954400	Enhancers	Fetal Muscle Leg	muscle
43	chr6:56954200-56954400	Enhancers	Placenta	Placenta
44	chr6:56954200-56954400	Enhancers	Fetal Stomach	stomach
45	chr6:56954200-56954400	Enhancers	Fetal Thymus	thymus
46	chr6:56954200-56954400	Enhancers	Right Atrium	heart
47	chr6:56954200-56954400	Enhancers	Stomach Mucosa	stomach
48	chr6:56954200-56954400	Enhancers	HMEC	breast
49	chr6:56954200-56954400	Enhancers	HSMM	muscle
50	chr6:56954200-56954400	Enhancers	NH-A	brain

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