Variant report

Variant	rs168617
Chromosome Location	chr1:226073020-226073021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226061864..226068048-chr1:226072871..226078674,7	MCF-7	breast:
2	chr1:226072637..226074788-chr1:226108524..226110197,2	MCF-7	breast:
3	chr1:226069159..226072331-chr1:226072580..226074899,5	MCF-7	breast:
4	chr1:226068530..226073051-chr1:226075073..226079547,5	MCF-7	breast:
5	chr1:226070192..226076477-chr1:226076711..226082534,9	K562	blood:
6	chr1:226070563..226073306-chr1:226118336..226120549,2	K562	blood:
7	chr1:226059449..226061032-chr1:226072512..226074332,2	MCF-7	breast:
8	chr1:226034812..226037407-chr1:226072394..226075386,2	MCF-7	breast:
9	chr1:225963541..225967644-chr1:226069236..226073918,5	MCF-7	breast:
10	chr1:226070971..226073106-chr1:226113461..226115401,2	MCF-7	breast:
11	chr1:226067470..226074101-chr1:226108823..226116408,13	MCF-7	breast:
12	chr1:226068470..226072541-chr1:226072642..226075761,8	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243709	Chromatin interaction
ENSG00000143811	Chromatin interaction
ENSG00000143742	Chromatin interaction
ENSG00000196187	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1223244	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs360060	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs360076	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs360093	0.82[EUR][1000 genomes]
rs360094	0.82[EUR][1000 genomes]
rs360097	0.82[EUR][1000 genomes]
rs360098	0.84[AMR][1000 genomes]
rs360099	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs360100	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
7	nsv520628	chr1:226026406-226093362	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226071000-226073800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:226071000-226074200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:226071000-226076200	Weak transcription	Small Intestine	intestine
4	chr1:226071000-226076400	Weak transcription	Spleen	Spleen
5	chr1:226071000-226078600	Weak transcription	Lung	lung
6	chr1:226071000-226083600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:226071200-226073800	Weak transcription	Thymus	Thymus
8	chr1:226071200-226074600	Weak transcription	Fetal Lung	lung
9	chr1:226071200-226075000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:226071200-226075400	Weak transcription	Ovary	ovary
11	chr1:226071200-226076200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:226071200-226076200	Weak transcription	Fetal Kidney	kidney
13	chr1:226071200-226076200	Weak transcription	A549	lung
14	chr1:226071200-226078200	Weak transcription	Gastric	stomach
15	chr1:226071200-226078200	Weak transcription	HMEC	breast
16	chr1:226071400-226075000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:226071600-226074200	Weak transcription	NHDF-Ad	bronchial
18	chr1:226071600-226076800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:226071800-226073800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:226071800-226074000	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:226071800-226074000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:226071800-226074200	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:226071800-226074400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:226071800-226074400	Weak transcription	Colonic Mucosa	Colon
25	chr1:226071800-226074400	Weak transcription	Esophagus	oesophagus
26	chr1:226071800-226074400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:226071800-226074600	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr1:226071800-226076000	Weak transcription	Right Ventricle	heart
29	chr1:226071800-226076400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:226071800-226076400	Weak transcription	Placenta	Placenta
31	chr1:226071800-226076800	Weak transcription	K562	blood
32	chr1:226071800-226078800	Weak transcription	Primary T cells from cord blood	blood
33	chr1:226072000-226073200	Weak transcription	Liver	Liver
34	chr1:226072000-226074000	Weak transcription	Fetal Intestine Large	intestine
35	chr1:226072000-226074200	Weak transcription	Fetal Intestine Small	intestine
36	chr1:226072000-226074200	Weak transcription	Pancreas	Pancrea
37	chr1:226072000-226074200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:226072000-226074200	Weak transcription	Stomach Mucosa	stomach
39	chr1:226072000-226075200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr1:226072000-226076800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr1:226072000-226081200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:226072000-226081600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr1:226072000-226082000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr1:226072800-226073400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr1:226073000-226073400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:226073000-226073600	Enhancers	HepG2	liver
47	chr1:226073000-226074000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:226073000-226077000	Strong transcription	Right Atrium	heart

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