Variant report

Variant	rs36004829
Chromosome Location	chr12:123461284-123461285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:123458534-123466263	K562	blood:	n/a	n/a
2	POLR2A	chr12:123461142-123461487	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr12:123458643-123461407	HL-60	blood:	n/a	n/a
4	POLR2A	chr12:123460872-123461345	HepG2	liver:	n/a	n/a
5	POLR2A	chr12:123460287-123466106	K562	blood:	n/a	n/a
6	POLR2A	chr12:123461138-123461540	A549	lung:	n/a	n/a
7	JUN	chr12:123458446-123461591	K562	blood:	n/a	chr12:123460542-123460551
8	POLR2A	chr12:123458525-123461675	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123459054..123462367-chr12:123715409..123720380,5	K562	blood:
2	chr12:123458147..123462549-chr12:123715608..123720287,8	MCF-7	breast:
3	chr12:120728398..120730404-chr12:123459731..123462257,2	MCF-7	breast:
4	chr12:123433587..123436454-chr12:123458977..123461529,2	K562	blood:
5	chr12:123344929..123347895-chr12:123458197..123461633,3	MCF-7	breast:
6	chr12:123457894..123461734-chr12:123715409..123718960,7	K562	blood:
7	chr12:123353599..123356535-chr12:123459324..123461652,2	MCF-7	breast:

No data

Variant related genes	Relation type
ABCB9	TF binding region
OGFOD2	TF binding region
ARL6IP4	TF binding region
ENSG00000051825	Chromatin interaction
ENSG00000130921	Chromatin interaction
ENSG00000130787	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000150967	Chromatin interaction
ENSG00000139722	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11057167	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057171	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11057173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057186	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11057195	1.00[AFR][1000 genomes]
rs11057199	1.00[AFR][1000 genomes]
rs11057213	1.00[AFR][1000 genomes]
rs11060406	1.00[AMR][1000 genomes]
rs11060703	0.95[EUR][1000 genomes]
rs11060765	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11060942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061016	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061275	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11061613	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11061615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12368208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12371718	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12372667	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12372699	1.00[AFR][1000 genomes]
rs2343106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2844287	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs484200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs523682	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56104963	1.00[AFR][1000 genomes]
rs56347904	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61751326	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230014	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73230019	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7488814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947800	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs947801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS 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	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers 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	78 gene(s)	inside rSNPs	diseases
9	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv899577	chr12:123435248-123484474	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
12	nsv899578	chr12:123459005-123474529	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123459800-123461400	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr12:123459800-123461400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:123459800-123461600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
4	chr12:123460000-123461400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:123460000-123461400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:123460000-123461400	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr12:123460000-123461400	Flanking Active TSS	Liver	Liver
8	chr12:123460200-123461400	Flanking Active TSS	Colonic Mucosa	Colon
9	chr12:123460200-123461400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr12:123460200-123461600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:123460200-123461600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:123460200-123461600	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr12:123460400-123461400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:123460400-123461400	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr12:123460400-123461400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr12:123460400-123461400	Flanking Active TSS	GM12878-XiMat	blood
17	chr12:123460400-123461400	Flanking Active TSS	HMEC	breast
18	chr12:123460600-123461400	Enhancers	Right Atrium	heart
19	chr12:123460600-123461400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr12:123460600-123461400	Flanking Active TSS	HepG2	liver
21	chr12:123460600-123461600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr12:123460600-123461600	Enhancers	Left Ventricle	heart
23	chr12:123460600-123462200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:123460600-123462800	Enhancers	Fetal Brain Male	brain
25	chr12:123460600-123464600	Weak transcription	Aorta	Aorta
26	chr12:123460800-123461400	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr12:123460800-123461400	Enhancers	Placenta	Placenta
28	chr12:123460800-123461600	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:123460800-123461600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:123460800-123461600	Flanking Active TSS	Pancreas	Pancrea
31	chr12:123460800-123461800	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr12:123460800-123461800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr12:123460800-123462000	Enhancers	Primary B cells from cord blood	blood
34	chr12:123460800-123462000	Enhancers	Right Ventricle	heart
35	chr12:123460800-123464000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:123460800-123464000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:123460800-123464600	Genic enhancers	Spleen	Spleen
38	chr12:123461000-123461400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:123461000-123461400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr12:123461000-123461400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
41	chr12:123461000-123461400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr12:123461000-123461400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
43	chr12:123461000-123461400	Enhancers	Thymus	Thymus
44	chr12:123461000-123461400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr12:123461000-123461400	Genic enhancers	NHLF	lung
46	chr12:123461000-123461600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:123461000-123461600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:123461000-123461600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:123461000-123461600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:123461000-123461600	Enhancers	Primary neutrophils fromperipheralblood	blood

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