Variant report

Variant	rs57697739
Chromosome Location	chr12:58136933-58136934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:58136849-58137174	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr12:58136812-58136961	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58021553..58023386-chr12:58135424..58137328,2	K562	blood:
2	chr12:57999349..58001291-chr12:58136626..58138684,2	MCF-7	breast:
3	chr12:57912826..57917389-chr12:58135038..58139778,7	K562	blood:
4	chr12:57943211..57945354-chr12:58136144..58138825,2	K562	blood:
5	chr12:58135922..58138105-chr12:58238206..58241573,3	MCF-7	breast:
6	chr12:58110256..58111795-chr12:58136834..58138576,2	K562	blood:
7	chr12:57915284..57917737-chr12:58135302..58137824,2	K562	blood:
8	chr12:58087963..58090015-chr12:58135422..58139186,3	K562	blood:
9	chr12:58136663..58139289-chr12:58209484..58211140,2	MCF-7	breast:

No data

Variant related genes	Relation type
AGAP2	TF binding region
TSPAN31	TF binding region
ENSG00000135407	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000155980	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000135506	Chromatin interaction
ENSG00000178498	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000208028	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs60158890	1.00[AFR][1000 genomes]
rs73338224	1.00[AFR][1000 genomes]
rs73338230	1.00[AFR][1000 genomes]
rs73338236	1.00[AFR][1000 genomes]
rs73338241	1.00[AFR][1000 genomes]
rs73338247	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv559045	chr12:58112189-58165085	Enhancers Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv470296	chr12:58112189-58177292	Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv899122	chr12:58118248-58137563	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv899123	chr12:58118248-58155023	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv826384	chr12:58124758-58157850	Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	nsv510601	chr12:58130298-58191925	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
10	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
11	nsv826386	chr12:58135303-58150535	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58131200-58138000	Weak transcription	K562	blood
2	chr12:58131800-58138000	Weak transcription	Lung	lung
3	chr12:58132200-58138800	Weak transcription	Gastric	stomach
4	chr12:58133200-58138000	Weak transcription	Pancreas	Pancrea
5	chr12:58133800-58137800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:58133800-58138000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:58134400-58138000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:58134800-58138000	Weak transcription	Brain Angular Gyrus	brain
9	chr12:58135000-58138000	Weak transcription	Left Ventricle	heart
10	chr12:58135200-58137800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:58135200-58137800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:58135200-58138000	Weak transcription	Spleen	Spleen
13	chr12:58135600-58138000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:58135600-58138000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:58136000-58137000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:58136000-58138000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:58136000-58138000	Weak transcription	Liver	Liver
18	chr12:58136000-58138000	Weak transcription	Brain Anterior Caudate	brain
19	chr12:58136000-58138000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr12:58136000-58138000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr12:58136000-58138000	Weak transcription	Small Intestine	intestine
22	chr12:58136200-58138000	Enhancers	Primary T cells from cord blood	blood
23	chr12:58136200-58138000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:58136200-58138000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:58136200-58138000	Weak transcription	Right Atrium	heart
26	chr12:58136200-58138200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr12:58136400-58137000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr12:58136400-58137000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:58136400-58137800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:58136400-58137800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:58136400-58137800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:58136400-58137800	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr12:58136400-58137800	Weak transcription	NHEK	skin
34	chr12:58136400-58138000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:58136400-58138000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr12:58136400-58138000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr12:58136400-58138000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr12:58136400-58138000	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:58136400-58138000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:58136400-58138000	Weak transcription	Colonic Mucosa	Colon
41	chr12:58136400-58138000	Weak transcription	Esophagus	oesophagus
42	chr12:58136400-58138000	Weak transcription	Thymus	Thymus
43	chr12:58136400-58138200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:58136400-58138200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr12:58136600-58137600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr12:58136600-58137600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:58136600-58137600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr12:58136600-58137600	Weak transcription	Dnd41	blood
49	chr12:58136600-58137600	Weak transcription	GM12878-XiMat	blood
50	chr12:58136600-58137600	Weak transcription	Monocytes-CD14+_RO01746	blood

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