Variant report

Variant	rs6537772
Chromosome Location	chr1:113617615-113617616
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:113617586-113617696	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113616013..113618025-chr1:113688637..113691001,2	MCF-7	breast:
2	chr1:113493791..113500715-chr1:113613796..113618010,15	K562	blood:
3	chr1:113615667..113617631-chr6:26055280..26057308,2	MCF-7	breast:
4	chr1:113615839..113617741-chr1:113618615..113621229,2	K562	blood:
5	chr1:113615878..113618493-chr1:113649795..113652119,3	MCF-7	breast:
6	chr1:113495059..113500488-chr1:113613593..113618010,11	K562	blood:
7	chr1:113615969..113617756-chr1:113641102..113642672,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238198	TF binding region
ENSG00000198799	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000226419	Chromatin interaction
ENSG00000187837	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1216805	0.83[AFR][1000 genomes]
rs1216808	0.83[AFR][1000 genomes]
rs1728227	0.82[AFR][1000 genomes]
rs1728229	0.83[AFR][1000 genomes]
rs1766864	0.83[AFR][1000 genomes]
rs1778016	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
5	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
7	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
8	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS 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 target site	69 gene(s)	inside rSNPs	diseases
9	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
10	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
11	nsv946146	chr1:113567302-113640814	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
13	nsv508537	chr1:113590343-113635803	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv437002	chr1:113592588-113658887	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113615000-113617800	Active TSS	Right Ventricle	heart
2	chr1:113615200-113617800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:113615200-113618000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:113615200-113618200	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr1:113615400-113618000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr1:113616400-113617800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr1:113616800-113617800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:113616800-113617800	Enhancers	Gastric	stomach
9	chr1:113616800-113617800	Enhancers	Pancreas	Pancrea
10	chr1:113616800-113617800	Enhancers	Spleen	Spleen
11	chr1:113616800-113618200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr1:113616800-113619400	Weak transcription	Placenta	Placenta
13	chr1:113616800-113621400	Weak transcription	Lung	lung
14	chr1:113616800-113625600	Weak transcription	Esophagus	oesophagus
15	chr1:113616800-113638600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:113617000-113617800	Enhancers	Primary B cells from cord blood	blood
17	chr1:113617000-113617800	Enhancers	Fetal Muscle Leg	muscle
18	chr1:113617000-113617800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr1:113617000-113618000	Weak transcription	Brain Substantia Nigra	brain
20	chr1:113617000-113618400	Enhancers	Primary T cells fromperipheralblood	blood
21	chr1:113617000-113618400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:113617000-113618800	Enhancers	Fetal Thymus	thymus
23	chr1:113617000-113620200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:113617000-113620800	Weak transcription	Fetal Lung	lung
25	chr1:113617000-113630800	Weak transcription	Ovary	ovary
26	chr1:113617000-113636800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:113617000-113636800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr1:113617000-113638400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:113617000-113645800	Weak transcription	Aorta	Aorta
30	chr1:113617200-113617800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr1:113617200-113617800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:113617200-113617800	Weak transcription	Fetal Intestine Large	intestine
33	chr1:113617200-113617800	Enhancers	Psoas Muscle	Psoas
34	chr1:113617200-113618000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:113617200-113618000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:113617200-113618000	Enhancers	Fetal Brain Female	brain
37	chr1:113617200-113618000	Weak transcription	Fetal Intestine Small	intestine
38	chr1:113617200-113618200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:113617200-113618200	Enhancers	Brain Germinal Matrix	brain
40	chr1:113617200-113618200	Enhancers	Fetal Heart	heart
41	chr1:113617200-113618400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:113617200-113618400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr1:113617200-113618400	Enhancers	Adipose Nuclei	Adipose
44	chr1:113617200-113618400	Weak transcription	Fetal Stomach	stomach
45	chr1:113617200-113618400	Enhancers	Thymus	Thymus
46	chr1:113617200-113618400	Enhancers	HepG2	liver
47	chr1:113617200-113618400	Enhancers	HUVEC	blood vessel
48	chr1:113617200-113618600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr1:113617200-113618600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr1:113617200-113618800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links