Variant report

Variant	rs10840619
Chromosome Location	chr12:122276664-122276665
allele	C/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122145250..122147577-chr12:122276156..122278348,3	K562	blood:
2	chr12:122276053..122278782-chr12:122303589..122306210,3	MCF-7	breast:
3	chr12:122276014..122279424-chr12:122324501..122328226,6	K562	blood:
4	chr12:122263316..122269840-chr12:122275192..122277563,9	K562	blood:
5	chr12:122274897..122277806-chr12:122281648..122283265,2	MCF-7	breast:
6	chr12:122276052..122278154-chr12:122709058..122710817,2	MCF-7	breast:
7	chr12:122275858..122279269-chr12:122324987..122328225,6	K562	blood:
8	chr12:122235011..122243917-chr12:122274636..122279415,16	K562	blood:
9	chr12:122269742..122274031-chr12:122274605..122278008,6	MCF-7	breast:
10	chr12:122276172..122280016-chr12:122325268..122328286,4	MCF-7	breast:
11	chr12:122276049..122279588-chr12:122294411..122297948,4	MCF-7	breast:
12	chr12:122275590..122277835-chr12:122486221..122487866,2	K562	blood:
13	chr12:122275909..122280625-chr12:122324321..122327791,8	MCF-7	breast:
14	chr12:122248656..122250378-chr12:122275889..122277499,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000212694	Chromatin interaction
ENSG00000184047	Chromatin interaction
ENSG00000158104	Chromatin interaction
ENSG00000110801	Chromatin interaction
ENSG00000272849	Chromatin interaction
ENSG00000256950	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11043202	0.80[EUR][1000 genomes]
rs11043203	0.80[EUR][1000 genomes]
rs12820413	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12823194	0.82[EUR][1000 genomes]
rs12825630	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2122266	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2707057	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]

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	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
3	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
4	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
5	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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122250800-122277200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:122251200-122277000	Weak transcription	Right Atrium	heart
3	chr12:122256000-122277000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:122256200-122277000	Weak transcription	Psoas Muscle	Psoas
5	chr12:122262400-122276800	Weak transcription	K562	blood
6	chr12:122266000-122277000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:122266400-122276800	Weak transcription	Stomach Mucosa	stomach
8	chr12:122266800-122277000	Weak transcription	Fetal Kidney	kidney
9	chr12:122266800-122277000	Weak transcription	HSMM	muscle
10	chr12:122266800-122277200	Weak transcription	Fetal Brain Male	brain
11	chr12:122267000-122277000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr12:122267200-122277000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:122267600-122277000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:122267800-122277000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:122268000-122276800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:122268000-122276800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr12:122268200-122277000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr12:122268200-122277000	Weak transcription	Brain Angular Gyrus	brain
19	chr12:122268400-122277000	Weak transcription	HMEC	breast
20	chr12:122269000-122276800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr12:122269000-122277000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr12:122269000-122277000	Weak transcription	Brain Substantia Nigra	brain
23	chr12:122269000-122277000	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:122269000-122277000	Weak transcription	Fetal Lung	lung
25	chr12:122269200-122276800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr12:122269200-122277000	Weak transcription	Gastric	stomach
27	chr12:122269200-122277000	Weak transcription	Pancreas	Pancrea
28	chr12:122269200-122277200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:122269200-122277200	Weak transcription	Aorta	Aorta
30	chr12:122269400-122277000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr12:122270000-122277000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:122270200-122276800	Weak transcription	Dnd41	blood
33	chr12:122270200-122276800	Weak transcription	Hela-S3	cervix
34	chr12:122270200-122277000	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr12:122270200-122277000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:122270200-122277000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:122270200-122277000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:122270200-122277000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:122270200-122277000	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:122270200-122277000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:122270200-122277000	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:122270200-122277000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:122270200-122277000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:122270200-122277000	Weak transcription	Brain Germinal Matrix	brain
45	chr12:122270200-122277000	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:122270200-122277000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:122270200-122277000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr12:122270200-122277000	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:122270200-122277000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr12:122270200-122277000	Weak transcription	HUVEC	blood vessel

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