Variant report

Variant	rs9805130
Chromosome Location	chr12:121715395-121715396
allele	A/G
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	MYC	chr12:121714733-121715401	MCF10A-Er-Src	breast:	n/a	chr12:121714940-121714949 chr12:121714941-121714948 chr12:121715010-121715019 chr12:121714939-121714950 chr12:121714939-121714949 chr12:121714940-121714949
2	FOS	chr12:121714802-121715541	MCF10A-Er-Src	breast:	n/a	chr12:121715013-121715020 chr12:121715008-121715020 chr12:121715008-121715019 chr12:121715010-121715018
3	NRF1	chr12:121714986-121715466	GM12878	blood:	n/a	n/a
4	FOS	chr12:121714792-121715474	HUVEC	blood vessel:	n/a	chr12:121715013-121715020 chr12:121715008-121715020 chr12:121715008-121715019 chr12:121715010-121715018
5	RCOR1	chr12:121714852-121715491	GM12878	blood:	n/a	n/a
6	FOS	chr12:121714825-121715538	MCF10A-Er-Src	breast:	n/a	chr12:121715013-121715020 chr12:121715008-121715020 chr12:121715008-121715019 chr12:121715010-121715018
7	MXI1	chr12:121714820-121715408	GM12878	blood:	n/a	n/a
8	FOS	chr12:121714815-121715541	MCF10A-Er-Src	breast:	n/a	chr12:121715013-121715020 chr12:121715008-121715020 chr12:121715008-121715019 chr12:121715010-121715018
9	FOS	chr12:121714778-121715515	MCF10A-Er-Src	breast:	n/a	chr12:121715013-121715020 chr12:121715008-121715020 chr12:121715008-121715019 chr12:121715010-121715018
10	STAT3	chr12:121714873-121715450	GM12878	blood:	n/a	chr12:121714891-121714914

No.	Distal block	Cell Line	Cell type
1	chr12:121706801..121708995-chr12:121713234..121716382,3	MCF-7	breast:
2	chr12:121713150..121717520-chr12:121730584..121734759,5	MCF-7	breast:
3	chr12:121713637..121715499-chr12:121719759..121721908,2	MCF-7	breast:

Variant related genes	Relation type
CAMKK2	TF binding region
ENSG00000110931	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11065512	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11065513	0.85[ASN][1000 genomes]
rs1151882	0.80[AFR][1000 genomes]
rs1151885	0.96[ASN][1000 genomes]
rs12582752	0.85[ASN][1000 genomes]
rs12582753	0.85[ASN][1000 genomes]
rs1653606	0.90[ASN][1000 genomes]
rs1718120	0.95[CHB][hapmap];0.86[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs1718123	0.95[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs2230776	0.85[ASN][1000 genomes]
rs2668254	0.96[ASN][1000 genomes]
rs2686347	0.90[ASN][1000 genomes]
rs2948119	0.84[ASN][1000 genomes]
rs3817190	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4474520	0.85[ASN][1000 genomes]
rs4474521	0.81[ASN][1000 genomes]
rs4474522	0.81[ASN][1000 genomes]
rs4480616	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61953430	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6489803	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6489804	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7976126	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer 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	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121677400-121717000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:121677400-121717200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:121679600-121732600	Strong transcription	Fetal Intestine Small	intestine
4	chr12:121681200-121717800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:121688400-121733000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:121689200-121717000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:121691200-121716400	Weak transcription	Psoas Muscle	Psoas
8	chr12:121699800-121716600	Weak transcription	Stomach Mucosa	stomach
9	chr12:121699800-121717200	Weak transcription	Fetal Heart	heart
10	chr12:121706600-121726400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr12:121707000-121733200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:121707400-121716600	Weak transcription	Brain Angular Gyrus	brain
13	chr12:121707400-121720200	Weak transcription	K562	blood
14	chr12:121707400-121733200	Weak transcription	HSMM	muscle
15	chr12:121707600-121719200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr12:121707600-121724600	Weak transcription	Fetal Brain Male	brain
17	chr12:121708800-121715400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:121708800-121730200	Weak transcription	HepG2	liver
19	chr12:121708800-121733400	Weak transcription	HSMMtube	muscle
20	chr12:121709200-121719000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:121709200-121726000	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:121709400-121718600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:121711400-121716600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr12:121711400-121719800	Weak transcription	Small Intestine	intestine
25	chr12:121711400-121732200	Weak transcription	Hela-S3	cervix
26	chr12:121711600-121716000	Weak transcription	Fetal Lung	lung
27	chr12:121711600-121716600	Weak transcription	Brain Substantia Nigra	brain
28	chr12:121711600-121717200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:121711800-121717400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:121711800-121732200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:121712000-121715800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:121712000-121716000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr12:121712000-121716400	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr12:121712000-121716600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:121712000-121725400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:121712000-121729000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:121712000-121732000	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr12:121712200-121716400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:121712200-121716400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr12:121712200-121716600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:121712200-121716800	Weak transcription	Colonic Mucosa	Colon
42	chr12:121712200-121717000	Weak transcription	NHLF	lung
43	chr12:121712200-121726000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:121712200-121728400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr12:121712400-121715400	Weak transcription	Lung	lung
46	chr12:121712400-121715800	Weak transcription	Ovary	ovary
47	chr12:121712400-121716200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:121712400-121716400	Weak transcription	Brain Anterior Caudate	brain
49	chr12:121712400-121716400	Weak transcription	Brain Hippocampus Middle	brain
50	chr12:121712400-121716400	Weak transcription	Pancreas	Pancrea

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