Variant report

Variant	rs12313997
Chromosome Location	chr12:122258925-122258926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122255928..122260265-chr12:122261621..122265841,4	K562	blood:
2	chr12:122257311..122259605-chr12:122263406..122267409,4	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11043202	0.89[ASN][1000 genomes]
rs11043203	0.89[ASN][1000 genomes]
rs1168668	0.89[ASN][1000 genomes]
rs1168669	0.89[ASN][1000 genomes]
rs1168672	0.89[ASN][1000 genomes]
rs12307227	0.89[ASN][1000 genomes]
rs12314801	1.00[ASN][1000 genomes]
rs1795965	0.89[ASN][1000 genomes]
rs2019561	0.89[ASN][1000 genomes]
rs2707067	0.89[ASN][1000 genomes]
rs895951	0.89[ASN][1000 genomes]
rs895952	0.89[ASN][1000 genomes]
rs895957	0.89[ASN][1000 genomes]
rs921286	0.89[ASN][1000 genomes]
rs921287	0.89[ASN][1000 genomes]

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	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	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
3	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv984477	chr12:122226309-122271532	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
5	nsv911	chr12:122234524-122279425	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	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
7	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122250800-122270200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:122250800-122270400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122250800-122277200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:122251000-122270200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:122251000-122270400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:122251200-122262000	Strong transcription	GM12878-XiMat	blood
7	chr12:122251200-122266800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:122251200-122270600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:122251200-122277000	Weak transcription	Right Atrium	heart
10	chr12:122251400-122259200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:122251400-122262800	Strong transcription	NH-A	brain
12	chr12:122251400-122263000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:122251400-122263000	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:122251400-122266600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:122251400-122270400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr12:122251600-122259000	Strong transcription	Aorta	Aorta
17	chr12:122251600-122259000	Strong transcription	Colonic Mucosa	Colon
18	chr12:122251600-122262200	Strong transcription	Rectal Smooth Muscle	rectum
19	chr12:122251600-122263200	Strong transcription	Brain Anterior Caudate	brain
20	chr12:122251600-122266200	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr12:122251600-122268800	Strong transcription	Primary T cells from cord blood	blood
22	chr12:122251600-122270400	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr12:122251600-122270400	Strong transcription	NHLF	lung
24	chr12:122251600-122270400	Strong transcription	Osteobl	bone
25	chr12:122251600-122270800	Strong transcription	Fetal Muscle Leg	muscle
26	chr12:122251600-122270800	Strong transcription	Fetal Stomach	stomach
27	chr12:122251800-122262200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:122251800-122262200	Strong transcription	Stomach Smooth Muscle	stomach
29	chr12:122251800-122262400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:122251800-122262400	Strong transcription	A549	lung
31	chr12:122251800-122262800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:122251800-122262800	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr12:122251800-122266400	Strong transcription	Brain Germinal Matrix	brain
34	chr12:122251800-122270200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr12:122251800-122270200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:122251800-122270400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:122251800-122270400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:122251800-122270400	Strong transcription	Fetal Brain Female	brain
39	chr12:122251800-122270400	Strong transcription	Fetal Intestine Large	intestine
40	chr12:122251800-122270400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr12:122251800-122270600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr12:122251800-122270800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr12:122252000-122259000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:122252000-122259000	Strong transcription	Pancreas	Pancrea
45	chr12:122252000-122259000	Strong transcription	HUVEC	blood vessel
46	chr12:122252000-122261600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:122252000-122262400	Strong transcription	Brain Cingulate Gyrus	brain
48	chr12:122252000-122262400	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr12:122252000-122262400	Strong transcription	NHEK	skin
50	chr12:122252000-122262600	Strong transcription	Left Ventricle	heart

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