Variant report

Variant	rs11171694
Chromosome Location	chr12:56293319-56293320
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	NR2F2	chr12:56292685-56293335	K562	blood:	n/a	n/a
2	TAL1	chr12:56292869-56293319	K562	blood:	n/a	n/a
3	CTCF	chr12:56293180-56293330	NB4	blood:	n/a	n/a
4	POLR2A	chr12:56293222-56293330	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
GSTP1P1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3802998	1.00[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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	esv3347258	chr12:56267734-56298106	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers 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 target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56279800-56320000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56280000-56294200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:56283000-56294800	Weak transcription	Thymus	Thymus
4	chr12:56284800-56294000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr12:56285200-56320000	Weak transcription	Pancreas	Pancrea
6	chr12:56287200-56294800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr12:56287400-56295000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr12:56289200-56294800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:56289400-56294200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:56290000-56295200	Weak transcription	GM12878-XiMat	blood
11	chr12:56291000-56308400	Weak transcription	Right Atrium	heart
12	chr12:56291200-56293600	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:56291200-56294200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:56291200-56295200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:56291400-56294000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:56291400-56294000	Weak transcription	Liver	Liver
17	chr12:56291400-56294200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr12:56291400-56294200	Weak transcription	Lung	lung
19	chr12:56291400-56294800	Weak transcription	Hela-S3	cervix
20	chr12:56291400-56296800	Weak transcription	HUVEC	blood vessel
21	chr12:56291400-56319000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:56291600-56294200	Weak transcription	Fetal Lung	lung
23	chr12:56292000-56298600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:56292400-56294000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:56292400-56294000	Weak transcription	Adipose Nuclei	Adipose
26	chr12:56292400-56294000	Weak transcription	Brain Germinal Matrix	brain
27	chr12:56292400-56294000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr12:56292400-56294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:56292400-56294200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:56292600-56293400	Enhancers	Primary T cells from cord blood	blood
31	chr12:56292600-56293400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr12:56292600-56293400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr12:56292600-56293400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:56292600-56293400	Enhancers	Fetal Intestine Small	intestine
35	chr12:56292600-56293400	Enhancers	HepG2	liver
36	chr12:56292600-56293400	Genic enhancers	NHDF-Ad	bronchial
37	chr12:56292600-56294000	Weak transcription	Fetal Stomach	stomach
38	chr12:56292600-56294200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:56292600-56294200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr12:56292600-56294200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:56292600-56294800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr12:56292600-56294800	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr12:56292600-56298000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr12:56292800-56293400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:56292800-56293400	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr12:56292800-56293400	Enhancers	Muscle Satellite Cultured Cells	--
47	chr12:56292800-56293400	Genic enhancers	HSMM	muscle
48	chr12:56292800-56293400	Enhancers	NHLF	lung
49	chr12:56292800-56293400	Enhancers	Osteobl	bone
50	chr12:56292800-56295000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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