Variant report

Variant	rs12061043
Chromosome Location	chr1:226086818-226086819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr1:226086485..226088841-chr1:226103222..226105310,2	K562	blood:
4	chr1:226070165..226072280-chr1:226086600..226088627,2	K562	blood:
5	chr1:226084737..226087614-chr1:226108761..226113097,5	K562	blood:
6	chr1:226085929..226088515-chr1:226102380..226104167,2	MCF-7	breast:
7	chr1:226085907..226088745-chr1:226113166..226115980,2	K562	blood:

Variant related genes	Relation type
ENSG00000196187	Chromatin interaction
ENSG00000143811	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10047091	1.00[EUR][1000 genomes]
rs10915895	0.84[AFR][1000 genomes]
rs12071072	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12071104	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074209	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074247	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12075664	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][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	0.82[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	0.83[AFR][1000 genomes]
rs35684337	0.83[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]
rs56231004	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56301120	0.88[ASN][1000 genomes]
rs56325807	0.82[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]
rs59728172	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][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]
rs6664740	1.00[EUR][1000 genomes]
rs74150536	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][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:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226077000-226099000	Weak transcription	Right Atrium	heart
2	chr1:226083400-226087000	Enhancers	Primary B cells from peripheral blood	blood
3	chr1:226083600-226087000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:226083800-226087600	Enhancers	Fetal Thymus	thymus
5	chr1:226084000-226087600	Enhancers	Thymus	Thymus
6	chr1:226084200-226087800	Enhancers	K562	blood
7	chr1:226084400-226087200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:226084400-226088800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:226084600-226087000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:226084600-226087000	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:226084600-226087400	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:226084800-226087600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr1:226084800-226088000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:226084800-226088600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:226084800-226098800	Weak transcription	Brain Substantia Nigra	brain
16	chr1:226085000-226087000	Enhancers	Primary B cells from cord blood	blood
17	chr1:226085000-226087200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:226085000-226087600	Enhancers	H9 Cell Line	embryonic stem cell
19	chr1:226085000-226087600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:226085000-226087600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:226085000-226087600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr1:226085000-226087800	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:226085000-226087800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr1:226085000-226098800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:226085000-226100200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr1:226085200-226087000	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr1:226085200-226087200	Enhancers	Spleen	Spleen
28	chr1:226085200-226087800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:226085600-226087600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:226085600-226087800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:226085600-226087800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr1:226085600-226088000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:226085800-226087000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr1:226085800-226087000	Flanking Active TSS	HepG2	liver
35	chr1:226085800-226087200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:226085800-226087400	Enhancers	Primary T cells from cord blood	blood
37	chr1:226085800-226087800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr1:226085800-226088000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:226086000-226087400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:226086000-226087800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:226086000-226087800	Enhancers	Primary T cells fromperipheralblood	blood
42	chr1:226086000-226087800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr1:226086000-226087800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr1:226086000-226087800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr1:226086000-226088400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:226086000-226092000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:226086200-226087000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:226086200-226098600	Weak transcription	Fetal Intestine Small	intestine
49	chr1:226086400-226087800	Enhancers	Lung	lung
50	chr1:226086600-226087000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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