Variant report

Variant	rs360076
Chromosome Location	chr1:226086336-226086337
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226069006..226071944-chr1:226083311..226087212,4	MCF-7	breast:
2	chr1:226085663..226088684-chr1:226110363..226113038,3	K562	blood:
3	chr1:226073359..226078692-chr1:226082383..226086507,6	MCF-7	breast:
4	chr1:226064389..226066777-chr1:226084664..226086775,2	MCF-7	breast:
5	chr1:226082392..226086570-chr1:226107502..226111171,5	MCF-7	breast:
6	chr1:226080997..226083226-chr1:226084406..226086533,2	K562	blood:
7	chr1:226084737..226087614-chr1:226108761..226113097,5	K562	blood:
8	chr1:226085929..226088515-chr1:226102380..226104167,2	MCF-7	breast:
9	chr1:226085907..226088745-chr1:226113166..226115980,2	K562	blood:

No data

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

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1223244	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs168617	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2292563	0.87[CHB][hapmap]
rs2292564	0.82[CEU][hapmap];0.91[CHB][hapmap]
rs360060	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs360093	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs360094	0.91[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs360097	0.91[CEU][hapmap];0.91[CHB][hapmap];0.82[EUR][1000 genomes]
rs360098	0.91[CEU][hapmap]
rs360099	0.82[EUR][1000 genomes]
rs360100	0.83[EUR][1000 genomes]
rs360101	0.82[CEU][hapmap]
rs360102	0.82[CEU][hapmap]
rs3820236	0.86[CEU][hapmap]
rs9919303	0.91[CHB][hapmap]

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	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
8	esv3335650	chr1:226074720-226125458	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	esv3369235	chr1:226075748-226127738	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
10	nsv468216	chr1:226078915-226135132	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
11	nsv549267	chr1:226078915-226135132	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription 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	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226077000-226099000	Weak transcription	Right Atrium	heart
2	chr1:226078800-226086800	Weak transcription	Fetal Stomach	stomach
3	chr1:226083400-226087000	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:226083600-226087000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:226083800-226087600	Enhancers	Fetal Thymus	thymus
6	chr1:226084000-226086800	Weak transcription	Gastric	stomach
7	chr1:226084000-226087600	Enhancers	Thymus	Thymus
8	chr1:226084200-226086600	Enhancers	Stomach Mucosa	stomach
9	chr1:226084200-226087800	Enhancers	K562	blood
10	chr1:226084400-226086400	Enhancers	Dnd41	blood
11	chr1:226084400-226086600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr1:226084400-226087200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:226084400-226088800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr1:226084600-226086400	Enhancers	Colonic Mucosa	Colon
15	chr1:226084600-226086400	Weak transcription	Lung	lung
16	chr1:226084600-226086400	Enhancers	Pancreas	Pancrea
17	chr1:226084600-226086800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:226084600-226086800	Enhancers	Fetal Intestine Large	intestine
19	chr1:226084600-226087000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:226084600-226087000	Enhancers	Duodenum Mucosa	Duodenum
21	chr1:226084600-226087400	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:226084800-226087600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:226084800-226088000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:226084800-226088600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr1:226084800-226098800	Weak transcription	Brain Substantia Nigra	brain
26	chr1:226085000-226086800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:226085000-226086800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:226085000-226087000	Enhancers	Primary B cells from cord blood	blood
29	chr1:226085000-226087200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:226085000-226087600	Enhancers	H9 Cell Line	embryonic stem cell
31	chr1:226085000-226087600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:226085000-226087600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:226085000-226087600	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr1:226085000-226087800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:226085000-226087800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr1:226085000-226098800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr1:226085000-226100200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr1:226085200-226086600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:226085200-226086600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr1:226085200-226086600	Enhancers	GM12878-XiMat	blood
41	chr1:226085200-226086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr1:226085200-226087000	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr1:226085200-226087200	Enhancers	Spleen	Spleen
44	chr1:226085200-226087800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr1:226085400-226086600	Weak transcription	HUVEC	blood vessel
46	chr1:226085400-226086800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:226085400-226086800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:226085400-226086800	Weak transcription	Small Intestine	intestine
49	chr1:226085600-226086600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr1:226085600-226087600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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