Variant report

Variant	rs187829333
Chromosome Location	chr6:56954021-56954022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr6:56953499-56955181	PBDE	blood:	n/a	chr6:56954751-56954761 chr6:56953627-56953637
2	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

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:56953991-56954041	PrEC	prostate:	n/a
2	chr6:56953982-56954032	ovcar-3	ovarian:	n/a
3	chr6:56953982-56954032	K562	blood:	n/a
4	chr6:56953982-56954032	CMK	blood:	n/a
5	chr6:56953991-56954041	ProgFib	skin:	n/a
6	chr6:56953982-56954032	SKMC	muscle:	n/a
7	chr6:56953982-56954032	AG09319	gingival:	n/a
8	chr6:56953982-56954032	MCF10A-Er-Src	breast:	n/a
9	chr6:56953991-56954041	SKMC	muscle:	n/a
10	chr6:56953991-56954041	HepG2	liver:	n/a
11	chr6:56953982-56954032	HIPEpiC	eye:	n/a
12	chr6:56953982-56954032	HUVEC	blood vessel:	n/a
13	chr6:56953991-56954041	SAEC	small airway:	n/a
14	chr6:56953982-56954032	NHBE	bronchial:	n/a
15	chr6:56953991-56954041	GM12892	blood:	n/a
16	chr6:56953991-56954041	HRE	kidney:	n/a
17	chr6:56953991-56954041	SK-N-SH_RA	brain:	n/a
18	chr6:56953982-56954032	Caco-2	colon:	n/a
19	chr6:56953982-56954032	GM12892	blood:	n/a
20	chr6:56953982-56954032	HPAEpiC	pulmonary alveolar:	n/a
21	chr6:56953991-56954041	ECC-1	luminal epithelium:	n/a
22	chr6:56953982-56954032	HepG2	liver:	n/a
23	chr6:56953991-56954041	RPTEC	kidney:	n/a
24	chr6:56953982-56954032	Hepatocyte	liver:	n/a
25	chr6:56953982-56954032	IMR90	lung:	fetal
26	chr6:56953982-56954032	HNPCEpiC	eye:	n/a
27	chr6:56953991-56954041	LNCaP	prostate:	n/a
28	chr6:56953991-56954041	Hela-S3	cervix:	n/a
29	chr6:56953982-56954032	HRCEpiC	kidney:	n/a
30	chr6:56953991-56954041	AG10803	skin:	n/a
31	chr6:56953991-56954041	T-47D	breast:	n/a
32	chr6:56953991-56954041	MCF10A-Er-Src	breast:	n/a
33	chr6:56953982-56954032	T-47D	breast:	n/a
34	chr6:56953991-56954041	NHBE	bronchial:	n/a
35	chr6:56953982-56954032	H1-hESC	embryonic stem cell:	embryo
36	chr6:56953991-56954041	ovcar-3	ovarian:	n/a
37	chr6:56953982-56954032	ECC-1	luminal epithelium:	n/a
38	chr6:56953991-56954041	GM06990	blood:	n/a
39	chr6:56953991-56954041	PANC-1	pancreas:	n/a
40	chr6:56953982-56954032	SAEC	small airway:	n/a
41	chr6:56953982-56954032	NB4	blood:	n/a
42	chr6:56953982-56954032	AG04450	lung:	fetal
43	chr6:56953982-56954032	HRPEpiC	eye:	n/a
44	chr6:56953991-56954041	NB4	blood:	n/a
45	chr6:56953991-56954041	SK-N-MC	brain:	n/a
46	chr6:56953982-56954032	AoSMC	blood vessel:	n/a
47	chr6:56953982-56954032	A549	lung:	n/a
48	chr6:56953982-56954032	NHDF-neo	bronchial:	n/a
49	chr6:56953991-56954041	HMEC	breast:	n/a
50	chr6:56953982-56954032	BJ	skin:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:56948909..56950719-chr6:56952712..56954669,2	K562	blood:
2	chr6:56952370..56954266-chr6:56971549..56974496,2	K562	blood:
3	chr6:56951936..56954342-chr6:57037762..57039413,2	K562	blood:

No data

Variant related genes	Relation type
ZNF451	TF binding region
ZNF451	CpG island
ENSG00000112208	Chromatin interaction
ENSG00000226803	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56914600-56954200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:56916800-56954400	Weak transcription	Thymus	Thymus
3	chr6:56918400-56954200	Weak transcription	Colon Smooth Muscle	Colon
4	chr6:56925400-56954400	Weak transcription	Primary B cells from cord blood	blood
5	chr6:56925600-56954200	Weak transcription	Hela-S3	cervix
6	chr6:56926600-56954200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr6:56927000-56954800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:56929200-56954200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr6:56929400-56954200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:56930000-56954200	Weak transcription	Fetal Intestine Small	intestine
11	chr6:56930400-56954200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:56931600-56954200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr6:56932600-56954200	Weak transcription	HMEC	breast
14	chr6:56933200-56954200	Weak transcription	HSMM	muscle
15	chr6:56935200-56954200	Weak transcription	Placenta	Placenta
16	chr6:56935200-56954800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:56939000-56954400	Weak transcription	Ovary	ovary
18	chr6:56939600-56954200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:56939600-56954200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:56939600-56954400	Weak transcription	Aorta	Aorta
21	chr6:56943200-56954200	Weak transcription	Right Atrium	heart
22	chr6:56944800-56954200	Weak transcription	Fetal Stomach	stomach
23	chr6:56945000-56954200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:56947400-56954200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:56947800-56954200	Weak transcription	Adipose Nuclei	Adipose
26	chr6:56948000-56954200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:56948000-56954200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:56948000-56954400	Weak transcription	Psoas Muscle	Psoas
29	chr6:56950400-56954200	Weak transcription	NHDF-Ad	bronchial
30	chr6:56950800-56954200	Weak transcription	Brain Germinal Matrix	brain
31	chr6:56952400-56954400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:56952400-56954400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:56952600-56954200	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr6:56952600-56954400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr6:56952800-56954200	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr6:56952800-56954400	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr6:56953000-56954200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:56953200-56954200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr6:56953200-56954800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr6:56953600-56954200	Enhancers	K562	blood
41	chr6:56953800-56954200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:56953800-56954200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr6:56953800-56954200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr6:56953800-56954200	Enhancers	Dnd41	blood
45	chr6:56953800-56954200	Enhancers	HepG2	liver
46	chr6:56953800-56954400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr6:56954000-56954200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:56954000-56954200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr6:56954000-56954200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr6:56954000-56954200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links