Variant report

Variant	rs531960462
Chromosome Location	chr12:122458636-122458637
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr12:122458631-122459133	MCF-7	breast:	n/a	n/a
2	GATA3	chr12:122458621-122459227	MCF-7	breast:	n/a	n/a
3	POLR2A	chr12:122458528-122460103	Raji	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:122457603..122461416-chr12:122608714..122613817,5	MCF-7	breast:
2	chr12:122370271..122373728-chr12:122458243..122461695,4	K562	blood:
3	chr12:122369123..122373485-chr12:122458454..122462950,5	K562	blood:
4	chr12:122236783..122240484-chr12:122457021..122461932,5	MCF-7	breast:
5	chr12:122354300..122356847-chr12:122457161..122460061,2	K562	blood:
6	chr12:122457987..122461924-chr12:122515396..122519074,6	MCF-7	breast:
7	chr12:122236856..122239163-chr12:122456320..122458969,2	K562	blood:
8	chr12:122455179..122457672-chr12:122458203..122460208,2	MCF-7	breast:
9	chr12:122353381..122358597-chr12:122457924..122463718,11	MCF-7	breast:

No data

Variant related genes	Relation type
BCL7A	TF binding region
ENSG00000255856	TF binding region
ENSG00000139725	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000158023	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	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	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
4	esv3338715	chr12:122457569-122462467	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	esv3388753	chr12:122458594-122461542	Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122442600-122458800	Weak transcription	Aorta	Aorta
2	chr12:122443000-122458800	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122443400-122458800	Weak transcription	Right Ventricle	heart
4	chr12:122443400-122459000	Weak transcription	Right Atrium	heart
5	chr12:122454800-122459000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr12:122455600-122458800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:122456400-122458800	Weak transcription	Pancreas	Pancrea
8	chr12:122456800-122458800	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:122457800-122458800	Enhancers	Primary B cells from cord blood	blood
10	chr12:122457800-122458800	Weak transcription	K562	blood
11	chr12:122458400-122458800	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr12:122458400-122459000	Enhancers	Fetal Brain Male	brain
13	chr12:122458400-122459400	Flanking Active TSS	Dnd41	blood
14	chr12:122458600-122458800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:122458600-122458800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr12:122458600-122458800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:122458600-122458800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr12:122458600-122458800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr12:122458600-122458800	Enhancers	Brain Cingulate Gyrus	brain
20	chr12:122458600-122458800	Active TSS	Brain Germinal Matrix	brain
21	chr12:122458600-122458800	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr12:122458600-122458800	Enhancers	Fetal Brain Female	brain
23	chr12:122458600-122458800	Bivalent Enhancer	Fetal Intestine Small	intestine
24	chr12:122458600-122458800	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr12:122458600-122458800	Active TSS	Thymus	Thymus
26	chr12:122458600-122458800	Active TSS	HSMMtube	muscle
27	chr12:122458600-122458800	Enhancers	NHLF	lung
28	chr12:122458600-122459000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:122458600-122459000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
30	chr12:122458600-122459000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
31	chr12:122458600-122459000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr12:122458600-122459000	Enhancers	Primary hematopoietic stem cells	blood
33	chr12:122458600-122459000	Active TSS	Brain Angular Gyrus	brain
34	chr12:122458600-122459000	Enhancers	Brain Hippocampus Middle	brain
35	chr12:122458600-122459000	Enhancers	Fetal Heart	heart
36	chr12:122458600-122459000	Enhancers	Fetal Intestine Large	intestine
37	chr12:122458600-122459000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
38	chr12:122458600-122459000	Bivalent Enhancer	Fetal Stomach	stomach
39	chr12:122458600-122459000	Enhancers	Left Ventricle	heart
40	chr12:122458600-122459200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:122458600-122459200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:122458600-122459200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr12:122458600-122459200	Flanking Bivalent TSS/Enh	HepG2	liver
44	chr12:122458600-122459400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr12:122458600-122459400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:122458600-122459400	Flanking Active TSS	Fetal Thymus	thymus
47	chr12:122458600-122459400	Flanking Active TSS	NHEK	skin
48	chr12:122458600-122459600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr12:122458600-122459600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:122458600-122459600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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