Variant report

Variant	rs921287
Chromosome Location	chr12:122245089-122245090
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr12:122240530-122245335	IMR90	lung:	n/a	n/a
2	POLR2A	chr12:122245013-122245278	K562	blood:	n/a	n/a
3	POLR2A	chr12:122244566-122245314	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122244343..122246026-chr12:122447313..122449275,2	K562	blood:
2	chr12:122228992..122246947-chr12:122322343..122339116,70	MCF-7	breast:
3	chr12:122184835..122196012-chr12:122235281..122245445,27	MCF-7	breast:
4	chr12:122228999..122246158-chr12:122324401..122342013,93	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000212694	TF binding region
RHOF	TF binding region
ENSG00000110801	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000188735	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1004390	0.92[EUR][1000 genomes]
rs11043202	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043203	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043207	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs1168663	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1168664	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1168665	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1168666	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1168668	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168669	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168671	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1168672	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1168673	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12307227	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12313997	0.89[ASN][1000 genomes]
rs12314801	0.89[ASN][1000 genomes]
rs12820413	0.82[ASN][1000 genomes]
rs12823194	0.85[EUR][1000 genomes]
rs1667578	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1667579	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1795965	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1795966	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2019561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019562	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2122266	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2707057	0.82[ASN][1000 genomes]
rs2707066	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2707067	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712852	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7957564	0.92[EUR][1000 genomes]
rs7974348	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs895951	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895952	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs895954	1.00[CEU][hapmap];0.86[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs895957	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921288	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs930665	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv984477	chr12:122226309-122271532	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
5	nsv911	chr12:122234524-122279425	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122235200-122245400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr12:122241600-122248600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:122242800-122245200	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr12:122242800-122245800	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr12:122243200-122245200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:122243200-122245200	Flanking Active TSS	Colonic Mucosa	Colon
7	chr12:122243200-122245200	Flanking Active TSS	NH-A	brain
8	chr12:122243200-122245800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr12:122243600-122245200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:122243600-122245200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:122243800-122245200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:122243800-122245200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:122243800-122245200	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr12:122243800-122245200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
15	chr12:122243800-122245200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr12:122243800-122245200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:122243800-122245200	Flanking Active TSS	Liver	Liver
18	chr12:122243800-122245200	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:122243800-122245200	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr12:122243800-122245200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
21	chr12:122243800-122245200	Flanking Active TSS	Pancreas	Pancrea
22	chr12:122243800-122245200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr12:122243800-122245200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
24	chr12:122243800-122245200	Flanking Active TSS	Hela-S3	cervix
25	chr12:122243800-122245400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr12:122243800-122245400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr12:122243800-122245400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:122243800-122245400	Transcr. at gene 5' and 3'	Right Ventricle	heart
29	chr12:122243800-122245400	Transcr. at gene 5' and 3'	HSMM	muscle
30	chr12:122243800-122245400	Transcr. at gene 5' and 3'	NHLF	lung
31	chr12:122243800-122245800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
32	chr12:122243800-122245800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr12:122243800-122245800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
34	chr12:122243800-122245800	Flanking Active TSS	GM12878-XiMat	blood
35	chr12:122243800-122246800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:122243800-122251600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:122244000-122245200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:122244000-122245200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:122244000-122245200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
40	chr12:122244000-122246200	Genic enhancers	Spleen	Spleen
41	chr12:122244200-122245200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:122244200-122245200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:122244200-122245200	Flanking Active TSS	Osteobl	bone
44	chr12:122244200-122245400	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr12:122244400-122245200	Flanking Active TSS	Rectal Smooth Muscle	rectum
46	chr12:122244400-122245400	Flanking Active TSS	Fetal Brain Female	brain
47	chr12:122244400-122249200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:122244600-122245200	Enhancers	H1 Cell Line	embryonic stem cell
49	chr12:122244600-122245200	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr12:122244600-122245200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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