Variant report

Variant	rs1017070
Chromosome Location	chr7:97489430-97489431
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	POLR2A	chr7:97489293-97489560	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:97480607-97497455	K562	blood:	n/a	n/a
3	POLR2A	chr7:97489404-97489525	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97481488..97486650-chr7:97486817..97491260,8	K562	blood:
2	chr7:97488155..97489772-chr7:97499944..97501920,2	MCF-7	breast:

Variant related genes	Relation type
ASNS	TF binding region
ENSG00000070669	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11768092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11771498	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17271261	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17278667	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17279084	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17343370	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17344446	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2108613	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2159087	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4727378	0.92[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4729385	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6465617	0.83[AMR][1000 genomes]
rs67120998	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67761639	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72615155	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73139196	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9640651	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv970554	chr7:97489362-97500692	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97475000-97492800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:97477600-97500600	Weak transcription	Thymus	Thymus
3	chr7:97479000-97501000	Weak transcription	Fetal Intestine Large	intestine
4	chr7:97479200-97500800	Weak transcription	Right Ventricle	heart
5	chr7:97479400-97501000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:97479400-97501000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:97479600-97501000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:97479800-97500200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr7:97480000-97491800	Weak transcription	Stomach Mucosa	stomach
10	chr7:97480200-97500600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:97480600-97489600	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:97480600-97498200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:97480600-97498200	Strong transcription	K562	blood
14	chr7:97480600-97498600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:97480800-97490000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:97480800-97490600	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr7:97480800-97491000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:97480800-97491000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:97480800-97491600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:97480800-97498400	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:97481000-97500600	Weak transcription	NHDF-Ad	bronchial
22	chr7:97481200-97498000	Weak transcription	Fetal Brain Male	brain
23	chr7:97481400-97500600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr7:97481400-97500600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:97481400-97500600	Weak transcription	Colon Smooth Muscle	Colon
26	chr7:97481400-97501000	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr7:97481800-97489600	Weak transcription	Fetal Thymus	thymus
28	chr7:97481800-97492600	Weak transcription	Esophagus	oesophagus
29	chr7:97481800-97500800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:97481800-97501000	Weak transcription	Fetal Intestine Small	intestine
31	chr7:97481800-97501000	Weak transcription	Gastric	stomach
32	chr7:97481800-97501000	Weak transcription	Pancreas	Pancrea
33	chr7:97481800-97501000	Weak transcription	Spleen	Spleen
34	chr7:97482000-97498200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:97482200-97497800	Weak transcription	HMEC	breast
36	chr7:97482800-97500800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr7:97483400-97490200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:97483600-97500600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:97483600-97500800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:97483800-97500800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr7:97484000-97500400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:97484200-97493600	Weak transcription	GM12878-XiMat	blood
43	chr7:97484200-97500600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr7:97484200-97501000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr7:97484600-97501000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:97485800-97492400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr7:97485800-97497000	Weak transcription	Hela-S3	cervix
48	chr7:97486200-97500800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr7:97486200-97501000	Weak transcription	Fetal Lung	lung
50	chr7:97486400-97492600	Weak transcription	HSMMtube	muscle

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