Variant report

Variant	rs56753830
Chromosome Location	chr12:49317971-49317972
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49211386..49213758-chr12:49317822..49319346,2	MCF-7	breast:
2	chr12:49316284..49318083-chr12:49329408..49331659,2	MCF-7	breast:
3	chr12:49316917..49319846-chr12:49321799..49325494,4	K562	blood:
4	chr12:49317412..49320697-chr12:49349793..49352537,4	MCF-7	breast:
5	chr12:49257454..49260772-chr12:49317154..49320539,3	MCF-7	breast:
6	chr12:49245963..49247751-chr12:49317835..49320703,2	MCF-7	breast:
7	chr12:49312309..49314599-chr12:49315946..49318306,2	MCF-7	breast:
8	chr12:49258143..49260662-chr12:49316104..49319150,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000134287	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000272822	Chromatin interaction
ENSG00000201678	Chromatin interaction
ENSG00000167535	Chromatin interaction
ENSG00000172602	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs74088529	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832404	chr12:49258560-49458555	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1051161	chr12:49314550-49828473	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
3	nsv541489	chr12:49314550-49828473	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	322 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49298200-49318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:49298400-49318000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:49298400-49318000	Weak transcription	Brain Substantia Nigra	brain
4	chr12:49298400-49318000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:49298400-49318200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr12:49298400-49318200	Weak transcription	Right Atrium	heart
7	chr12:49298400-49318400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr12:49298600-49318200	Weak transcription	Brain Anterior Caudate	brain
9	chr12:49298800-49318000	Weak transcription	Fetal Lung	lung
10	chr12:49298800-49318200	Weak transcription	Fetal Brain Male	brain
11	chr12:49302000-49318200	Weak transcription	Brain Germinal Matrix	brain
12	chr12:49305000-49318400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:49307800-49318200	Weak transcription	Brain Angular Gyrus	brain
14	chr12:49308800-49318200	Weak transcription	Fetal Brain Female	brain
15	chr12:49310000-49318200	Weak transcription	Gastric	stomach
16	chr12:49310600-49318000	Weak transcription	Fetal Intestine Large	intestine
17	chr12:49311000-49318600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:49312000-49318000	Weak transcription	HepG2	liver
19	chr12:49312000-49318200	Weak transcription	Fetal Kidney	kidney
20	chr12:49312200-49318200	Weak transcription	Primary B cells from cord blood	blood
21	chr12:49312400-49318200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:49312600-49318000	Weak transcription	Thymus	Thymus
23	chr12:49313000-49318000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr12:49313200-49318200	Weak transcription	Colonic Mucosa	Colon
25	chr12:49313200-49318200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr12:49313400-49318000	Weak transcription	HMEC	breast
27	chr12:49313400-49318400	Weak transcription	Left Ventricle	heart
28	chr12:49313400-49318400	Weak transcription	Ovary	ovary
29	chr12:49313400-49319000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:49313600-49318200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:49313600-49318200	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:49313600-49318200	Weak transcription	NHDF-Ad	bronchial
33	chr12:49313600-49318400	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:49314200-49318000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:49314400-49318000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:49314400-49318200	Weak transcription	Placenta	Placenta
37	chr12:49314400-49318400	Weak transcription	Esophagus	oesophagus
38	chr12:49314400-49318600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:49314400-49338000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:49314400-49338600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:49314600-49318000	Strong transcription	A549	lung
42	chr12:49314800-49318000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:49314800-49318000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:49314800-49318000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:49314800-49318200	Weak transcription	Adipose Nuclei	Adipose
46	chr12:49315000-49318000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:49315000-49318000	Strong transcription	Fetal Stomach	stomach
48	chr12:49315400-49318200	Strong transcription	HUES64 Cell Line	embryonic stem cell
49	chr12:49315600-49318000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr12:49315600-49318200	Weak transcription	Lung	lung

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