Variant report

Variant	rs12071104
Chromosome Location	chr1:226084115-226084116
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: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	chr1:226076187..226078341-chr1:226083118..226085754,2	K562	blood:
2	chr1:226061743..226065093-chr1:226081244..226084907,3	MCF-7	breast:
3	chr1:226069006..226071944-chr1:226083311..226087212,4	MCF-7	breast:
4	chr1:226073077..226074812-chr1:226081952..226084486,2	K562	blood:
5	chr1:226067224..226072522-chr1:226081850..226086228,5	K562	blood:
6	chr1:226073359..226078692-chr1:226082383..226086507,6	MCF-7	breast:
7	chr1:226082392..226086570-chr1:226107502..226111171,5	MCF-7	breast:
8	chr1:226068047..226071599-chr1:226082710..226085024,3	K562	blood:
9	chr1:226075279..226077934-chr1:226082021..226084716,2	MCF-7	breast:

No data

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

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10047091	1.00[EUR][1000 genomes]
rs10915883	0.81[AFR][1000 genomes]
rs10915886	0.82[AFR][1000 genomes]
rs10915887	0.82[AFR][1000 genomes]
rs10915888	0.82[AFR][1000 genomes]
rs10915890	0.87[AFR][1000 genomes]
rs10915895	0.97[AFR][1000 genomes]
rs12061043	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12070110	0.82[AFR][1000 genomes]
rs12070816	0.82[AFR][1000 genomes]
rs12071072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12071413	0.82[AFR][1000 genomes]
rs12074209	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074247	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12075664	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12077174	0.81[AFR][1000 genomes]
rs12077562	0.82[AFR][1000 genomes]
rs12077565	0.82[AFR][1000 genomes]
rs12078868	0.84[AFR][1000 genomes]
rs12079891	0.82[AFR][1000 genomes]
rs12081742	0.85[AFR][1000 genomes]
rs12082207	0.85[AFR][1000 genomes]
rs12083928	0.82[AFR][1000 genomes]
rs12084714	0.82[AFR][1000 genomes]
rs12091106	0.82[AFR][1000 genomes]
rs12097377	0.85[AFR][1000 genomes]
rs2236143	0.97[EUR][1000 genomes]
rs2271544	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2292556	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292559	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2292560	0.90[ASN][1000 genomes]
rs2292561	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2292568	0.87[EUR][1000 genomes]
rs28384446	0.92[EUR][1000 genomes]
rs28384447	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28384448	0.95[EUR][1000 genomes]
rs28384449	0.95[EUR][1000 genomes]
rs35273824	0.95[AFR][1000 genomes]
rs35684337	0.95[AFR][1000 genomes]
rs360084	0.90[ASN][1000 genomes]
rs360087	0.90[ASN][1000 genomes]
rs360089	0.90[ASN][1000 genomes]
rs3738050	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3738051	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3753663	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3753666	0.92[EUR][1000 genomes]
rs3753668	1.00[EUR][1000 genomes]
rs3753670	1.00[EUR][1000 genomes]
rs3766935	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3766936	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3766937	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3766940	0.95[EUR][1000 genomes]
rs3766941	1.00[EUR][1000 genomes]
rs3806257	1.00[EUR][1000 genomes]
rs3806258	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41310561	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4149227	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4149228	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4149230	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs45467394	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55706532	0.82[AFR][1000 genomes]
rs56035614	0.83[AFR][1000 genomes]
rs56112955	0.85[AFR][1000 genomes]
rs56231004	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56301120	0.88[ASN][1000 genomes]
rs56325807	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57095220	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57932384	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58852301	0.82[AFR][1000 genomes]
rs59728172	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60739570	0.85[AFR][1000 genomes]
rs60847271	0.95[EUR][1000 genomes]
rs60943392	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61033712	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61227102	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61295362	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61304305	0.82[AFR][1000 genomes]
rs6664740	1.00[EUR][1000 genomes]
rs74150536	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74150537	0.81[AFR][1000 genomes]
rs74150538	0.82[AFR][1000 genomes]
rs74150539	0.85[AFR][1000 genomes]
rs74150558	0.80[AFR][1000 genomes]
rs74150559	0.83[AFR][1000 genomes]
rs7514448	1.00[EUR][1000 genomes]
rs7516538	1.00[EUR][1000 genomes]
rs805179	0.90[ASN][1000 genomes]

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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226076800-226084600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:226077000-226085200	Weak transcription	Spleen	Spleen
3	chr1:226077000-226099000	Weak transcription	Right Atrium	heart
4	chr1:226077400-226084600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:226078800-226084200	Weak transcription	A549	lung
6	chr1:226078800-226084800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr1:226078800-226086800	Weak transcription	Fetal Stomach	stomach
8	chr1:226079000-226084400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:226079000-226084600	Weak transcription	Colonic Mucosa	Colon
10	chr1:226079000-226084800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:226079200-226084400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:226079200-226084600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr1:226079200-226085000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr1:226079200-226085800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:226079600-226084200	Weak transcription	K562	blood
16	chr1:226079600-226084400	Weak transcription	NHEK	skin
17	chr1:226079600-226084600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr1:226079600-226084600	Weak transcription	Fetal Intestine Large	intestine
19	chr1:226079800-226084200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:226079800-226084200	Weak transcription	HepG2	liver
21	chr1:226079800-226084400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:226079800-226084400	Weak transcription	HMEC	breast
23	chr1:226079800-226084600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:226079800-226084600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:226079800-226084600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:226079800-226084600	Weak transcription	Hela-S3	cervix
27	chr1:226079800-226084800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:226079800-226085000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr1:226080400-226084200	Weak transcription	Stomach Mucosa	stomach
30	chr1:226081200-226084200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr1:226081400-226084600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr1:226081600-226084200	Enhancers	Primary T cells from cord blood	blood
33	chr1:226081600-226084600	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr1:226082000-226084200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr1:226082000-226085600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:226082400-226084600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr1:226083400-226084600	Enhancers	Primary B cells from cord blood	blood
38	chr1:226083400-226084600	Weak transcription	Small Intestine	intestine
39	chr1:226083400-226087000	Enhancers	Primary B cells from peripheral blood	blood
40	chr1:226083600-226084200	Enhancers	Pancreas	Pancrea
41	chr1:226083600-226084400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr1:226083600-226084400	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr1:226083600-226084600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:226083600-226084600	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr1:226083600-226084600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr1:226083600-226084600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr1:226083600-226084600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr1:226083600-226084600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr1:226083600-226084600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr1:226083600-226084600	Enhancers	Rectal Mucosa Donor 29	rectum

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