Variant report

Variant	rs531642968
Chromosome Location	chr12:120697813-120697814
allele	A/C
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	chr12:120690051..120707499-chr12:120720410..120732530,91	MCF-7	breast:
3	chr12:120671830..120673653-chr12:120697293..120699656,2	K562	blood:

Variant related genes	Relation type
ENSG00000202538	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000089159	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
7	nsv560436	chr12:120697470-120705828	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120676400-120699400	Weak transcription	Aorta	Aorta
2	chr12:120686000-120700200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:120688600-120700200	Weak transcription	Fetal Kidney	kidney
4	chr12:120690400-120700400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:120691600-120699800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:120691800-120699800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:120692400-120700000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:120693000-120698000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:120693200-120698400	Enhancers	HUVEC	blood vessel
10	chr12:120693200-120699600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr12:120693200-120699600	Weak transcription	Fetal Thymus	thymus
12	chr12:120693200-120700000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:120693200-120700000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:120693200-120700000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:120693200-120700800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr12:120693400-120699400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr12:120694000-120698400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:120694000-120699600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr12:120694000-120699800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr12:120694000-120700400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr12:120694200-120698600	Enhancers	Fetal Intestine Large	intestine
22	chr12:120694200-120699600	Enhancers	HepG2	liver
23	chr12:120694200-120700200	Genic enhancers	Fetal Intestine Small	intestine
24	chr12:120694400-120699600	Enhancers	A549	lung
25	chr12:120694600-120699600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:120694800-120699800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:120695000-120698600	Enhancers	NHDF-Ad	bronchial
28	chr12:120695000-120698800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr12:120695000-120699600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr12:120695400-120699800	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr12:120695400-120702000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:120695600-120699400	Weak transcription	Esophagus	oesophagus
33	chr12:120695600-120699800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr12:120695600-120700000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:120695600-120700200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr12:120695600-120700800	Weak transcription	Fetal Brain Male	brain
37	chr12:120695800-120699600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr12:120695800-120700800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:120696000-120699600	Weak transcription	Gastric	stomach
40	chr12:120696000-120700000	Genic enhancers	Fetal Muscle Leg	muscle
41	chr12:120696200-120698000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:120696200-120698400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:120696200-120699600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:120696200-120701800	Weak transcription	Brain Germinal Matrix	brain
45	chr12:120696400-120698400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr12:120696400-120698400	Weak transcription	HSMMtube	muscle
47	chr12:120696400-120698600	Weak transcription	Brain Anterior Caudate	brain
48	chr12:120696400-120698800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:120696400-120699400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr12:120696400-120699400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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