Variant report

Variant	rs12316702
Chromosome Location	chr12:122299657-122299658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr12:122299481-122300149	SH-SY5Y	brain:	n/a	n/a
2	MAX	chr12:122299595-122299795	NB4	blood:	n/a	n/a
3	CEBPB	chr12:122299482-122299722	K562	blood:	n/a	n/a
4	TBL1XR1	chr12:122299565-122299825	K562	blood:	n/a	n/a
5	MYC	chr12:122299566-122299778	K562	blood:	n/a	n/a
6	JUND	chr12:122299553-122299756	K562	blood:	n/a	n/a
7	GATA3	chr12:122299454-122299805	SH-SY5Y	brain:	n/a	n/a
8	MYC	chr12:122299563-122299730	NB4	blood:	n/a	n/a
9	KAP1	chr12:122299402-122300206	HEK293	kidney:	n/a	n/a
10	GATA3	chr12:122299475-122299930	MCF-7	breast:	n/a	n/a
11	BHLHE40	chr12:122299636-122299787	K562	blood:	n/a	n/a
12	GATA3	chr12:122299266-122300215	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr12:122299477-122299847	T-47D	breast:	n/a	n/a
14	CEBPB	chr12:122299414-122299760	K562	blood:	n/a	n/a
15	NR2F2	chr12:122299473-122299731	K562	blood:	n/a	n/a
16	GATA3	chr12:122299317-122300200	SK-N-SH	brain:	n/a	n/a
17	RCOR1	chr12:122299509-122299758	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:122237722..122239509-chr12:122297633..122299963,2	MCF-7	breast:
2	chr12:122293214..122297138-chr12:122297451..122299741,3	K562	blood:
3	chr12:122231575..122234439-chr12:122297036..122301100,4	MCF-7	breast:

No data

Variant related genes	Relation type
HPD	TF binding region
ENSG00000212694	Chromatin interaction
ENSG00000158104	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000256811	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11043230	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11829393	0.89[ASW][hapmap];0.87[LWK][hapmap];0.95[MKK][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11830915	0.89[ASW][hapmap]
rs12310449	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12313193	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13378033	0.85[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73413792	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415604	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73415607	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7974677	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122295400-122300000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:122295400-122300400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:122297000-122304200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:122297200-122299800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:122297600-122299800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:122297600-122299800	Weak transcription	Fetal Kidney	kidney
7	chr12:122297600-122304400	Weak transcription	NHDF-Ad	bronchial
8	chr12:122297800-122299800	Weak transcription	Ovary	ovary
9	chr12:122297800-122300400	Weak transcription	Fetal Intestine Small	intestine
10	chr12:122298000-122300200	Enhancers	Liver	Liver
11	chr12:122298400-122300000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:122298400-122300000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr12:122298600-122299800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:122298600-122299800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:122298600-122299800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:122298600-122301000	Weak transcription	Pancreas	Pancrea
17	chr12:122298800-122299800	Weak transcription	Psoas Muscle	Psoas
18	chr12:122299200-122299800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr12:122299200-122300200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr12:122299200-122300200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:122299200-122300200	Enhancers	Fetal Stomach	stomach
22	chr12:122299200-122300200	Enhancers	K562	blood
23	chr12:122299400-122300200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr12:122299400-122300200	Enhancers	Adipose Nuclei	Adipose
25	chr12:122299400-122300200	Enhancers	Colon Smooth Muscle	Colon
26	chr12:122299400-122300200	Enhancers	Fetal Lung	lung
27	chr12:122299400-122300200	Enhancers	Stomach Smooth Muscle	stomach
28	chr12:122299400-122300200	Enhancers	A549	lung
29	chr12:122299400-122300200	Flanking Active TSS	HepG2	liver
30	chr12:122299400-122300200	Enhancers	NH-A	brain
31	chr12:122299400-122300400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:122299600-122299800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:122299600-122299800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:122299600-122299800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:122299600-122299800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:122299600-122299800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:122299600-122299800	Enhancers	Fetal Muscle Leg	muscle
38	chr12:122299600-122299800	Enhancers	HSMM	muscle
39	chr12:122299600-122299800	Flanking Active TSS	Osteobl	bone
40	chr12:122299600-122300000	Active TSS	Brain Anterior Caudate	brain
41	chr12:122299600-122300000	Active TSS	HSMMtube	muscle
42	chr12:122299600-122300000	Active TSS	NHLF	lung
43	chr12:122299600-122300200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr12:122299600-122300200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:122299600-122300200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:122299600-122300200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr12:122299600-122300200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr12:122299600-122300200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:122299600-122300200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr12:122299600-122300200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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