Variant report

Variant	rs12313853
Chromosome Location	chr12:51395508-51395509
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51384221..51386732-chr12:51393559..51396729,3	MCF-7	breast:
2	chr12:51389653..51392226-chr12:51393368..51395789,3	MCF-7	breast:
3	chr12:51395457..51398981-chr12:51402269..51404576,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110911	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11169656	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312871	1.00[AMR][1000 genomes]
rs12320480	1.00[AMR][1000 genomes]

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	esv3414501	chr12:51174503-51534707	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 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	chr12:51378000-51401800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:51378600-51399000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:51378800-51396000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:51379400-51396000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr12:51379400-51396200	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:51379600-51395600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:51379800-51396400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:51380000-51396200	Strong transcription	Dnd41	blood
9	chr12:51380200-51396400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr12:51380200-51396600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:51380200-51401800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr12:51380200-51402200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr12:51380400-51396200	Strong transcription	Fetal Brain Female	brain
14	chr12:51380400-51396200	Strong transcription	Placenta	Placenta
15	chr12:51380600-51399600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:51381200-51395800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr12:51381200-51402200	Strong transcription	Fetal Thymus	thymus
18	chr12:51381200-51402200	Weak transcription	Psoas Muscle	Psoas
19	chr12:51381200-51402400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:51381200-51403000	Strong transcription	Fetal Muscle Leg	muscle
21	chr12:51381400-51396400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr12:51381400-51403000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr12:51381800-51401600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:51381800-51401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:51381800-51402400	Strong transcription	Liver	Liver
26	chr12:51382000-51395800	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:51382000-51396400	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:51382000-51402000	Strong transcription	Fetal Stomach	stomach
29	chr12:51382000-51402200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:51382400-51399400	Strong transcription	Fetal Intestine Large	intestine
31	chr12:51382600-51399400	Strong transcription	Fetal Intestine Small	intestine
32	chr12:51385600-51402600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:51386000-51406600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:51386000-51414200	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:51386200-51398800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:51386800-51402200	Weak transcription	Right Atrium	heart
37	chr12:51387000-51396200	Strong transcription	Brain Inferior Temporal Lobe	brain
38	chr12:51388000-51395800	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:51388000-51401000	Strong transcription	Primary T cells from cord blood	blood
40	chr12:51388200-51396200	Strong transcription	Brain Substantia Nigra	brain
41	chr12:51388200-51396200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr12:51388200-51402000	Strong transcription	Adipose Nuclei	Adipose
43	chr12:51388400-51396200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr12:51388600-51406600	Weak transcription	Small Intestine	intestine
45	chr12:51389400-51405400	Weak transcription	Esophagus	oesophagus
46	chr12:51390000-51396200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr12:51390000-51400400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:51390000-51405800	Weak transcription	Stomach Mucosa	stomach
49	chr12:51390200-51398200	Weak transcription	Colonic Mucosa	Colon
50	chr12:51390600-51397600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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