Variant report

Variant	rs572318262
Chromosome Location	chr12:49931299-49931300
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:49931280-49931430	HBMEC	blood vessel:	n/a	n/a
2	ZNF384	chr12:49931101-49931322	GM12878	blood:	n/a	n/a
3	ZNF384	chr12:49931104-49931463	K562	blood:	n/a	n/a
4	CTCF	chr12:49931260-49931410	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:49930852..49937653-chr12:49953841..49959391,7	K562	blood:
2	chr12:49668500..49671128-chr12:49928861..49931681,2	MCF-7	breast:
3	chr12:49759022..49764027-chr12:49928293..49932911,8	MCF-7	breast:
4	chr12:49759326..49761606-chr12:49928836..49931818,3	MCF-7	breast:
5	chr12:49657477..49660356-chr12:49930384..49933439,3	K562	blood:
6	chr12:49759353..49762276-chr12:49930939..49933731,4	K562	blood:
7	chr12:49930865..49935032-chr12:49959689..49963246,5	K562	blood:

No data

Variant related genes	Relation type
KCNH3	TF binding region
ENSG00000110844	Chromatin interaction
ENSG00000258101	Chromatin interaction
ENSG00000123352	Chromatin interaction
ENSG00000187778	Chromatin interaction
ENSG00000167553	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899070	chr12:49811311-49941500	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv832406	chr12:49860693-50062136	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv482795	chr12:49897633-50068686	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	esv1801776	chr12:49915354-49934565	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv899071	chr12:49927148-49955935	Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv3431223	chr12:49931235-49934833	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49914400-49931400	Weak transcription	Pancreas	Pancrea
2	chr12:49920200-49931400	Weak transcription	Brain Anterior Caudate	brain
3	chr12:49920600-49931400	Weak transcription	Spleen	Spleen
4	chr12:49929600-49931400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:49929600-49931600	Enhancers	HMEC	breast
6	chr12:49929600-49931600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr12:49929800-49931400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr12:49929800-49931400	Enhancers	A549	lung
9	chr12:49930200-49931400	Weak transcription	Esophagus	oesophagus
10	chr12:49930400-49931400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:49930600-49931400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:49930600-49931400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
13	chr12:49930800-49931400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
14	chr12:49930800-49931400	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr12:49930800-49931400	Bivalent Enhancer	Fetal Stomach	stomach
16	chr12:49930800-49931400	Weak transcription	Hela-S3	cervix
17	chr12:49931000-49931400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr12:49931000-49931400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
19	chr12:49931000-49931400	Bivalent Enhancer	Fetal Brain Male	brain
20	chr12:49931000-49931400	Bivalent Enhancer	Fetal Heart	heart
21	chr12:49931000-49931400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr12:49931000-49931400	Bivalent Enhancer	Placenta	Placenta
23	chr12:49931000-49931400	Bivalent Enhancer	NHEK	skin
24	chr12:49931000-49932400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
25	chr12:49931200-49931400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:49931200-49931400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr12:49931200-49931400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:49931200-49931400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
29	chr12:49931200-49931400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr12:49931200-49931400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
31	chr12:49931200-49931400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr12:49931200-49931400	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr12:49931200-49931400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr12:49931200-49931400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:49931200-49931400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:49931200-49931400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:49931200-49931400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:49931200-49931400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:49931200-49931400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:49931200-49931400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
41	chr12:49931200-49931400	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr12:49931200-49931400	Bivalent Enhancer	Colonic Mucosa	Colon
43	chr12:49931200-49931400	Bivalent Enhancer	Colon Smooth Muscle	Colon
44	chr12:49931200-49931400	Bivalent/Poised TSS	Fetal Brain Female	brain
45	chr12:49931200-49931400	Bivalent Enhancer	Fetal Intestine Large	intestine
46	chr12:49931200-49931400	Bivalent Enhancer	Fetal Intestine Small	intestine
47	chr12:49931200-49931400	Bivalent Enhancer	Fetal Lung	lung
48	chr12:49931200-49931400	Bivalent Enhancer	Psoas Muscle	Psoas
49	chr12:49931200-49931400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
50	chr12:49931200-49931400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle

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