Variant report

Variant	rs536149667
Chromosome Location	chr12:120693623-120693624
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:120692902..120700386-chr12:120700764..120704596,11	K562	blood:
2	chr12:120637449..120640321-chr12:120692742..120694999,3	K562	blood:
3	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
4	chr12:120553795..120555970-chr12:120692642..120694541,2	MCF-7	breast:
5	chr12:120692750..120694251-chr12:120725476..120727142,2	K562	blood:

Variant related genes	Relation type
ENSG00000089159	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000111737	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer 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	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	esv3348252	chr12:120693229-120693637	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
2	chr12:120683200-120694800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:120683200-120695200	Weak transcription	Fetal Brain Male	brain
4	chr12:120686000-120700200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:120686600-120695000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:120688000-120694000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr12:120688000-120694000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:120688000-120694200	Weak transcription	Brain Angular Gyrus	brain
9	chr12:120688000-120694200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:120688000-120695200	Weak transcription	Gastric	stomach
11	chr12:120688200-120694800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:120688200-120695000	Weak transcription	Liver	Liver
13	chr12:120688400-120694000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr12:120688400-120694200	Weak transcription	Pancreas	Pancrea
15	chr12:120688400-120694400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:120688400-120694800	Weak transcription	Esophagus	oesophagus
17	chr12:120688600-120694000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr12:120688600-120694000	Weak transcription	Brain Substantia Nigra	brain
19	chr12:120688600-120694200	Weak transcription	Fetal Heart	heart
20	chr12:120688600-120694200	Weak transcription	Stomach Mucosa	stomach
21	chr12:120688600-120700200	Weak transcription	Fetal Kidney	kidney
22	chr12:120688800-120694000	Weak transcription	Brain Anterior Caudate	brain
23	chr12:120688800-120694000	Weak transcription	Right Ventricle	heart
24	chr12:120688800-120694200	Weak transcription	HepG2	liver
25	chr12:120690200-120694000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:120690200-120694000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:120690200-120694000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr12:120690400-120694000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:120690400-120694000	Weak transcription	K562	blood
30	chr12:120690400-120694800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:120690400-120695000	Weak transcription	Small Intestine	intestine
32	chr12:120690400-120695200	Weak transcription	HSMMtube	muscle
33	chr12:120690400-120697800	Weak transcription	Colonic Mucosa	Colon
34	chr12:120690400-120700400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:120690600-120694000	Weak transcription	Brain Hippocampus Middle	brain
36	chr12:120690600-120694000	Weak transcription	Lung	lung
37	chr12:120690600-120694000	Weak transcription	Right Atrium	heart
38	chr12:120690600-120694200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr12:120690600-120694400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr12:120690600-120694800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:120690600-120694800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr12:120690600-120694800	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr12:120690600-120695200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:120690800-120694000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:120691000-120695200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:120691200-120694200	Strong transcription	Fetal Intestine Small	intestine
47	chr12:120691200-120694200	Weak transcription	Spleen	Spleen
48	chr12:120691400-120694200	Weak transcription	Psoas Muscle	Psoas
49	chr12:120691600-120693800	Weak transcription	Dnd41	blood
50	chr12:120691600-120694000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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