Variant report

Variant	rs7796049
Chromosome Location	chr7:7682091-7682092
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA2	chr7:7681844-7682130	HepG2	liver:	n/a	n/a
2	RCOR1	chr7:7681898-7682203	K562	blood:	n/a	n/a
3	MXI1	chr7:7678754-7682381	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr7:7681687-7682855	MCF-7	breast:	n/a	n/a
5	TCF7L2	chr7:7681738-7682155	Hela-S3	cervix:	n/a	n/a
6	MYC	chr7:7681681-7682095	K562	blood:	n/a	n/a
7	MAX	chr7:7681128-7682174	Hela-S3	cervix:	n/a	n/a
8	ZNF384	chr7:7681556-7682177	K562	blood:	n/a	n/a
9	RFX5	chr7:7677457-7682740	SK-N-SH	brain:	n/a	n/a
10	SMC3	chr7:7681846-7682105	Hela-S3	cervix:	n/a	n/a
11	MAFF	chr7:7682010-7682153	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:7603046..7608569-chr7:7677123..7682101,8	MCF-7	breast:
2	chr7:7680700..7683473-chr7:7685626..7688056,2	MCF-7	breast:
3	chr7:7623467..7625147-chr7:7680756..7682414,2	K562	blood:
4	chr7:7680697..7682834-chr7:8264362..8267648,3	K562	blood:

No data

Variant related genes	Relation type
RPA3	TF binding region
ENSG00000272894	Chromatin interaction
ENSG00000164654	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12702633	0.94[CEU][hapmap];0.81[MEX][hapmap]
rs13225575	0.83[CEU][hapmap]
rs13227585	0.83[CEU][hapmap]
rs13227682	0.94[CEU][hapmap]
rs13242410	0.94[CEU][hapmap]
rs17466949	0.84[GIH][hapmap];0.81[MEX][hapmap]
rs17545935	0.94[CEU][hapmap];0.88[GIH][hapmap];0.93[MEX][hapmap];0.87[MKK][hapmap];0.88[TSI][hapmap]
rs28916005	0.94[CEU][hapmap];0.86[MEX][hapmap]
rs6974820	0.94[CEU][hapmap]
rs7789164	0.83[CEU][hapmap]
rs7793870	0.94[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS 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 miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	59 gene(s)	inside rSNPs	diseases
6	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv1034199	chr7:7617835-7691176	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
8	nsv606044	chr7:7652372-7727101	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7796049	CYTH3	cis	cerebellum	SCAN

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7679600-7682200	Active TSS	Colonic Mucosa	Colon
2	chr7:7681000-7682200	Flanking Active TSS	Hela-S3	cervix
3	chr7:7681200-7682600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr7:7681400-7682200	Enhancers	Primary B cells from peripheral blood	blood
5	chr7:7681400-7682200	Enhancers	Primary T cells fromperipheralblood	blood
6	chr7:7681400-7682200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr7:7681400-7682200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:7681400-7682200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:7681400-7682200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr7:7681400-7682200	Flanking Active TSS	K562	blood
11	chr7:7681400-7682600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:7681400-7682600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr7:7681400-7682600	Enhancers	Brain Substantia Nigra	brain
14	chr7:7681400-7682600	Weak transcription	Gastric	stomach
15	chr7:7681400-7682600	Weak transcription	Pancreas	Pancrea
16	chr7:7681400-7684200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:7681400-7685600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:7681400-7685600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr7:7681400-7688600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:7681400-7688600	Weak transcription	Ovary	ovary
21	chr7:7681400-7690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr7:7681600-7682200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:7681600-7682200	Enhancers	Primary B cells from cord blood	blood
24	chr7:7681600-7682200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:7681600-7682200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr7:7681600-7682200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr7:7681600-7682400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:7681600-7682600	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr7:7681600-7682600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr7:7681600-7683000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr7:7681600-7685400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr7:7681600-7692000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:7681600-7703800	Weak transcription	Stomach Mucosa	stomach
34	chr7:7681600-7710200	Weak transcription	Aorta	Aorta
35	chr7:7681800-7682200	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr7:7681800-7682200	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr7:7681800-7682200	Flanking Active TSS	Thymus	Thymus
38	chr7:7681800-7682200	Enhancers	A549	lung
39	chr7:7681800-7682400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr7:7681800-7682400	Enhancers	Fetal Intestine Large	intestine
41	chr7:7681800-7682400	Flanking Active TSS	Fetal Thymus	thymus
42	chr7:7681800-7682400	Enhancers	Dnd41	blood
43	chr7:7681800-7682600	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr7:7681800-7682600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr7:7681800-7682600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr7:7681800-7683800	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:7681800-7684600	Weak transcription	Rectal Smooth Muscle	rectum
48	chr7:7681800-7685400	Weak transcription	GM12878-XiMat	blood
49	chr7:7681800-7685800	Weak transcription	Fetal Lung	lung
50	chr7:7681800-7686000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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