Variant report

Variant	rs324011
Chromosome Location	chr12:57502182-57502183
allele	C/T
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	POLR2A	chr12:57497767-57502742	GM12878	blood:	n/a	n/a
2	POLR2A	chr12:57502140-57502240	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:57501760-57502343	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
STAT6	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12298170	0.80[GIH][hapmap]
rs12322902	0.80[GIH][hapmap]
rs12368672	1.00[ASW][hapmap];0.84[CEU][hapmap];0.87[GIH][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs167769	1.00[ASW][hapmap];0.92[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3001425	0.89[EUR][1000 genomes]
rs3001427	0.90[EUR][1000 genomes]
rs3122929	0.90[EUR][1000 genomes]
rs324012	0.81[ASN][1000 genomes]
rs324020	1.00[JPT][hapmap]
rs4759275	0.80[GIH][hapmap]
rs703816	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs703817	1.00[JPT][hapmap];0.87[YRI][hapmap]
rs841718	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv428590	chr12:57329214-57527358	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv832428	chr12:57340609-57535694	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers 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	103 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57486200-57503600	Weak transcription	Fetal Brain Male	brain
2	chr12:57486600-57503800	Weak transcription	Brain Substantia Nigra	brain
3	chr12:57487600-57503600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:57488800-57502400	Strong transcription	Fetal Stomach	stomach
5	chr12:57489000-57503600	Weak transcription	Brain Angular Gyrus	brain
6	chr12:57490000-57503800	Weak transcription	NH-A	brain
7	chr12:57490000-57504000	Weak transcription	Brain Germinal Matrix	brain
8	chr12:57490400-57503400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:57493000-57503200	Weak transcription	Brain Hippocampus Middle	brain
10	chr12:57493000-57503400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:57493400-57503200	Weak transcription	HUVEC	blood vessel
12	chr12:57494000-57502600	Strong transcription	Placenta	Placenta
13	chr12:57494000-57504000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:57495800-57502600	Strong transcription	Osteobl	bone
15	chr12:57496000-57502400	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr12:57496400-57502200	Strong transcription	Thymus	Thymus
17	chr12:57496600-57502200	Strong transcription	Spleen	Spleen
18	chr12:57496600-57503200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:57496800-57502200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:57496800-57504000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:57497400-57502600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:57497400-57502600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:57497600-57502200	Strong transcription	HMEC	breast
24	chr12:57497600-57502200	Strong transcription	NHDF-Ad	bronchial
25	chr12:57497600-57502400	Strong transcription	Dnd41	blood
26	chr12:57497600-57502400	Strong transcription	HSMM	muscle
27	chr12:57497600-57502800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:57497600-57503200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr12:57497800-57502200	Strong transcription	NHLF	lung
30	chr12:57497800-57502400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:57497800-57503200	Strong transcription	NHEK	skin
32	chr12:57498000-57502600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:57498000-57502800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr12:57498400-57503000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:57498400-57503800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr12:57498600-57502600	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr12:57499000-57502400	Genic enhancers	Fetal Muscle Leg	muscle
38	chr12:57499400-57502200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:57499600-57502400	Enhancers	Fetal Heart	heart
40	chr12:57499600-57502600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr12:57499600-57502600	Genic enhancers	Liver	Liver
42	chr12:57499600-57502800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:57499800-57502400	Genic enhancers	Right Ventricle	heart
44	chr12:57499800-57502800	Genic enhancers	Primary T cells from cord blood	blood
45	chr12:57499800-57503400	Weak transcription	HSMMtube	muscle
46	chr12:57500000-57502600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
47	chr12:57500000-57502800	Genic enhancers	Duodenum Mucosa	Duodenum
48	chr12:57500400-57503600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr12:57500600-57502200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr12:57500600-57502400	Genic enhancers	Fetal Intestine Large	intestine

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