Variant report

Variant	rs34323718
Chromosome Location	chr12:56335312-56335313
allele	A/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: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	chr12:56332625..56335607-chr12:56366338..56368554,4	MCF-7	breast:
2	chr12:56122789..56124369-chr12:56333771..56335626,2	K562	blood:
3	chr12:56135076..56137351-chr12:56332808..56335651,3	K562	blood:
4	chr12:56330972..56338064-chr12:56344899..56352450,13	MCF-7	breast:
5	chr12:56333047..56336022-chr12:56349677..56352067,3	K562	blood:
6	chr12:56229943..56232528-chr12:56333269..56336105,2	MCF-7	breast:
7	chr12:56334536..56336984-chr12:56364435..56366138,2	MCF-7	breast:
8	chr12:56211687..56216264-chr12:56332406..56336008,6	MCF-7	breast:
9	chr12:56334256..56336718-chr12:56359485..56361088,3	K562	blood:
10	chr12:56333191..56336155-chr12:56365028..56368008,4	K562	blood:
11	chr12:56335086..56337260-chr12:56350653..56352325,2	MCF-7	breast:
12	chr12:56135076..56139517-chr12:56332723..56335701,7	K562	blood:
13	chr12:56335218..56337263-chr12:56359251..56361080,2	K562	blood:
14	chr12:56332717..56336094-chr12:56364167..56367444,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000065357	Chromatin interaction
ENSG00000135414	Chromatin interaction
ENSG00000258056	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000135404	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000123342	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1066130	1.00[EUR][1000 genomes]
rs1068188	1.00[EUR][1000 genomes]
rs1068189	1.00[EUR][1000 genomes]
rs1088050	1.00[EUR][1000 genomes]
rs1091527	1.00[EUR][1000 genomes]
rs11833164	1.00[EUR][1000 genomes]
rs11834873	1.00[EUR][1000 genomes]
rs11835018	1.00[EUR][1000 genomes]
rs11835310	1.00[EUR][1000 genomes]
rs1626158	1.00[EUR][1000 genomes]
rs1681071	1.00[EUR][1000 genomes]
rs1681079	1.00[EUR][1000 genomes]
rs1681080	1.00[EUR][1000 genomes]
rs1681088	1.00[EUR][1000 genomes]
rs1689508	1.00[EUR][1000 genomes]
rs1689509	1.00[EUR][1000 genomes]
rs1689517	1.00[EUR][1000 genomes]
rs1689518	1.00[EUR][1000 genomes]
rs1701701	1.00[EUR][1000 genomes]
rs1701702	1.00[EUR][1000 genomes]
rs1702872	1.00[EUR][1000 genomes]
rs2035948	1.00[EUR][1000 genomes]
rs2625137	1.00[EUR][1000 genomes]
rs2625146	1.00[EUR][1000 genomes]
rs2640566	1.00[EUR][1000 genomes]
rs2640568	1.00[EUR][1000 genomes]
rs2658478	1.00[EUR][1000 genomes]
rs2661728	1.00[EUR][1000 genomes]
rs2661729	1.00[EUR][1000 genomes]
rs2934152	1.00[EUR][1000 genomes]
rs4417324	1.00[EUR][1000 genomes]
rs56696262	1.00[EUR][1000 genomes]
rs57237559	1.00[EUR][1000 genomes]
rs57785224	1.00[EUR][1000 genomes]
rs57990974	1.00[EUR][1000 genomes]
rs59794023	1.00[EUR][1000 genomes]
rs61733171	1.00[EUR][1000 genomes]
rs705697	1.00[EUR][1000 genomes]
rs705710	1.00[EUR][1000 genomes]
rs705712	1.00[EUR][1000 genomes]
rs705713	1.00[EUR][1000 genomes]
rs705714	1.00[EUR][1000 genomes]
rs705716	1.00[EUR][1000 genomes]
rs7298109	1.00[EUR][1000 genomes]
rs7300292	1.00[EUR][1000 genomes]
rs7304690	1.00[EUR][1000 genomes]
rs7309327	1.00[EUR][1000 genomes]
rs7310292	1.00[EUR][1000 genomes]
rs73338377	1.00[EUR][1000 genomes]
rs73338385	1.00[EUR][1000 genomes]
rs772459	1.00[EUR][1000 genomes]
rs772463	1.00[EUR][1000 genomes]
rs772464	1.00[EUR][1000 genomes]
rs772470	1.00[EUR][1000 genomes]
rs772474	1.00[EUR][1000 genomes]
rs772697	1.00[EUR][1000 genomes]
rs772698	1.00[EUR][1000 genomes]
rs772699	1.00[EUR][1000 genomes]
rs772701	1.00[EUR][1000 genomes]
rs772705	1.00[EUR][1000 genomes]
rs7954155	1.00[EUR][1000 genomes]
rs7957187	1.00[EUR][1000 genomes]
rs7958958	1.00[EUR][1000 genomes]
rs7975037	1.00[EUR][1000 genomes]
rs7980782	1.00[EUR][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	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56326400-56345000	Weak transcription	Ovary	ovary
2	chr12:56326800-56335800	Weak transcription	Aorta	Aorta
3	chr12:56328800-56352200	Weak transcription	Small Intestine	intestine
4	chr12:56330000-56336000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr12:56330200-56336600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:56330400-56335600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr12:56330400-56336000	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr12:56330400-56339200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:56330400-56339400	Strong transcription	Primary hematopoietic stem cells	blood
10	chr12:56332000-56339800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:56333800-56335400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:56333800-56336400	Genic enhancers	Fetal Intestine Small	intestine
13	chr12:56334000-56336800	Genic enhancers	Primary T cells from cord blood	blood
14	chr12:56334000-56337200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:56334000-56345000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr12:56334000-56349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:56334200-56335400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:56334200-56335400	Genic enhancers	Fetal Thymus	thymus
19	chr12:56334200-56340000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:56334200-56340200	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr12:56334200-56343600	Strong transcription	Primary B cells from cord blood	blood
22	chr12:56334200-56345400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:56334200-56349800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr12:56334400-56335600	Weak transcription	HSMM	muscle
25	chr12:56334400-56335800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:56334400-56335800	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:56334400-56335800	Weak transcription	NH-A	brain
28	chr12:56334400-56336800	Strong transcription	Spleen	Spleen
29	chr12:56334400-56343600	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr12:56334400-56343800	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:56334400-56345000	Weak transcription	Left Ventricle	heart
32	chr12:56334400-56345200	Weak transcription	Lung	lung
33	chr12:56334400-56345400	Weak transcription	Liver	Liver
34	chr12:56334400-56347400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr12:56334400-56348400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:56334400-56349400	Strong transcription	Thymus	Thymus
37	chr12:56334600-56335400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:56334600-56335400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr12:56334600-56335400	Weak transcription	Osteobl	bone
40	chr12:56334600-56335600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:56334600-56335600	Strong transcription	Duodenum Mucosa	Duodenum
42	chr12:56334600-56335600	Weak transcription	Fetal Intestine Large	intestine
43	chr12:56334600-56335600	Weak transcription	HUVEC	blood vessel
44	chr12:56334600-56335800	Weak transcription	Adipose Nuclei	Adipose
45	chr12:56334600-56336000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:56334600-56336000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr12:56334600-56336200	Strong transcription	Fetal Muscle Leg	muscle
48	chr12:56334600-56336200	Weak transcription	K562	blood
49	chr12:56334600-56336800	Strong transcription	Colonic Mucosa	Colon
50	chr12:56334600-56336800	Strong transcription	Fetal Stomach	stomach

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