Variant report

Variant	rs574510530
Chromosome Location	chr12:58238738-58238739
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58236689..58239049-chr12:58299056..58300765,2	K562	blood:
2	chr12:58156406..58160029-chr12:58238044..58241191,3	MCF-7	breast:
3	chr12:58164479..58167905-chr12:58237563..58242209,7	K562	blood:
4	chr12:58165655..58167905-chr12:58237563..58240125,2	K562	blood:
5	chr12:58164678..58167264-chr12:58237471..58241552,5	MCF-7	breast:
6	chr12:58144944..58148202-chr12:58236897..58241575,4	MCF-7	breast:
7	chr12:58238634..58240343-chr12:58334223..58336659,2	MCF-7	breast:
8	chr12:57997608..58000545-chr12:58238111..58240464,2	MCF-7	breast:
9	chr12:31477188..31479124-chr12:58238397..58240521,2	MCF-7	breast:
10	chr12:58162243..58164732-chr12:58237977..58240961,2	K562	blood:
11	chr12:58219013..58221062-chr12:58238426..58242369,4	K562	blood:
12	chr12:58212086..58214984-chr12:58238632..58241452,2	K562	blood:
13	chr12:58163238..58167741-chr12:58238267..58242135,5	MCF-7	breast:
14	chr12:58236777..58241883-chr12:58327592..58331955,7	K562	blood:
15	chr12:58216404..58218669-chr12:58237617..58240211,2	MCF-7	breast:
16	chr12:58238134..58241883-chr12:58327269..58331955,5	K562	blood:
17	chr12:58135922..58138105-chr12:58238206..58241573,3	MCF-7	breast:
18	chr12:58237402..58238978-chr12:58333823..58335875,2	K562	blood:
19	chr12:58236711..58242486-chr12:58286970..58293951,15	MCF-7	breast:
20	chr12:58233944..58243826-chr12:58273095..58290464,46	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000111012	Chromatin interaction
ENSG00000207789	Chromatin interaction
ENSG00000135407	Chromatin interaction
ENSG00000135446	Chromatin interaction
ENSG00000257698	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000175215	Chromatin interaction
ENSG00000139146	Chromatin interaction
ENSG00000178498	Chromatin interaction
ENSG00000037897	Chromatin interaction
ENSG00000177340	Chromatin interaction
ENSG00000245651	Chromatin interaction
ENSG00000135439	Chromatin interaction
ENSG00000166896	Chromatin interaction
ENSG00000123427	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases
2	nsv826388	chr12:58238659-58242397	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58235200-58239000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr12:58235800-58238800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr12:58236200-58238800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:58236200-58238800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:58236200-58239000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
6	chr12:58236200-58239400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:58236200-58239400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:58236400-58239200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:58236600-58239200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr12:58237000-58239000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr12:58237000-58241000	Active TSS	Aorta	Aorta
12	chr12:58237200-58241200	Active TSS	Ovary	ovary
13	chr12:58237400-58239000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr12:58237400-58239400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr12:58237400-58241200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:58237600-58238800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:58237600-58239200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr12:58237600-58241000	Active TSS	Rectal Smooth Muscle	rectum
19	chr12:58237600-58241400	Active TSS	Brain Substantia Nigra	brain
20	chr12:58237600-58241400	Active TSS	Fetal Kidney	kidney
21	chr12:58237800-58241000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr12:58237800-58241200	Active TSS	Colon Smooth Muscle	Colon
23	chr12:58238000-58238800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:58238000-58238800	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr12:58238000-58238800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr12:58238000-58238800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
27	chr12:58238000-58238800	Flanking Active TSS	A549	lung
28	chr12:58238000-58238800	Flanking Active TSS	GM12878-XiMat	blood
29	chr12:58238000-58238800	Flanking Active TSS	NHEK	skin
30	chr12:58238000-58239000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:58238000-58239400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr12:58238000-58239600	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr12:58238000-58240200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr12:58238000-58241000	Active TSS	Brain Anterior Caudate	brain
35	chr12:58238000-58241000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr12:58238000-58241000	Active TSS	HSMMtube	muscle
37	chr12:58238000-58241200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr12:58238200-58239000	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr12:58238200-58239000	Flanking Active TSS	HUVEC	blood vessel
40	chr12:58238200-58239000	Flanking Active TSS	K562	blood
41	chr12:58238200-58239200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr12:58238200-58239200	Flanking Active TSS	Dnd41	blood
43	chr12:58238200-58241000	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr12:58238400-58240400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:58238400-58240800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:58238400-58240800	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr12:58238400-58240800	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr12:58238400-58240800	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr12:58238400-58240800	Active TSS	Small Intestine	intestine
50	chr12:58238400-58241000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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