Variant report

Variant	rs57990974
Chromosome Location	chr12:56349121-56349122
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:1)
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	chr12:56223409..56227527-chr12:56348845..56352516,3	MCF-7	breast:
2	chr12:56210260..56213184-chr12:56348200..56352160,4	MCF-7	breast:
3	chr12:56318513..56323358-chr12:56346151..56349389,6	MCF-7	breast:
4	chr12:56330972..56338064-chr12:56344899..56352450,13	MCF-7	breast:
5	chr12:56348195..56352007-chr12:56357444..56361194,9	MCF-7	breast:
6	chr12:56347495..56350123-chr12:56435234..56438339,3	K562	blood:
7	chr12:56319350..56329795-chr12:56348492..56353182,19	MCF-7	breast:
8	chr12:56346732..56350497-chr12:56509495..56512206,3	MCF-7	breast:
9	chr12:56324994..56327276-chr12:56346740..56350037,3	MCF-7	breast:
10	chr12:56348719..56352915-chr12:56364675..56368847,8	MCF-7	breast:
11	chr12:56334005..56336493-chr12:56348151..56349903,2	MCF-7	breast:
12	chr12:56320118..56322111-chr12:56348872..56350934,2	K562	blood:
13	chr12:56347495..56350244-chr12:56435234..56436914,2	K562	blood:
14	chr12:56343431..56347236-chr12:56348315..56351520,6	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WIBG-3	chr12:56349058-56349166	NONHSAT028723

No data

Variant related genes	Relation type
ENSG00000197728	Chromatin interaction
ENSG00000185664	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000170473	Chromatin interaction
ENSG00000065357	Chromatin interaction
ENSG00000182796	Chromatin interaction
ENSG00000111540	Chromatin interaction
ENSG00000123353	Chromatin interaction
ENSG00000257449	Chromatin interaction
ENSG00000135482	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000135392	Chromatin interaction
ENSG00000123374	Chromatin interaction
ENSG00000205323	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

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]
rs34323718	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]
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]
rs7962107	1.00[EUR][1000 genomes]
rs7975037	1.00[EUR][1000 genomes]
rs7975405	1.00[EUR][1000 genomes]
rs7980782	1.00[EUR][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	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
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 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	chr12:56328800-56352200	Weak transcription	Small Intestine	intestine
2	chr12:56334000-56349800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr12:56334200-56349800	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:56334400-56349400	Strong transcription	Thymus	Thymus
5	chr12:56334600-56349400	Strong transcription	Dnd41	blood
6	chr12:56334600-56349800	Weak transcription	Stomach Mucosa	stomach
7	chr12:56335000-56349400	Weak transcription	Fetal Brain Male	brain
8	chr12:56335400-56350000	Strong transcription	Fetal Thymus	thymus
9	chr12:56336400-56349200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:56336800-56350000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:56336800-56350400	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:56336800-56351600	Strong transcription	Primary T cells from cord blood	blood
13	chr12:56338400-56349400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr12:56339200-56349200	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:56341600-56349400	Strong transcription	Fetal Stomach	stomach
16	chr12:56343600-56350000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr12:56344600-56349200	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr12:56344800-56349200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:56344800-56349600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr12:56344800-56349600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr12:56345000-56349400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:56345000-56349600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr12:56345000-56349600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:56345000-56352200	Strong transcription	HUES48 Cell Line	embryonic stem cell
25	chr12:56345000-56353000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:56345000-56353000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:56345000-56353600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:56345000-56354000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:56345400-56359000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:56345600-56349600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:56345600-56351200	Weak transcription	HepG2	liver
32	chr12:56345600-56353200	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr12:56345800-56351200	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:56346000-56349600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:56346000-56352400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:56346200-56349800	Weak transcription	Right Ventricle	heart
37	chr12:56346400-56352400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:56346600-56349200	Weak transcription	Left Ventricle	heart
39	chr12:56346600-56349600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:56346600-56350600	Weak transcription	HUVEC	blood vessel
41	chr12:56346600-56351600	Weak transcription	Brain Angular Gyrus	brain
42	chr12:56346600-56360000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:56346800-56350400	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr12:56346800-56350400	Weak transcription	Adipose Nuclei	Adipose
45	chr12:56346800-56359400	Weak transcription	Brain Anterior Caudate	brain
46	chr12:56347000-56353800	Weak transcription	Ovary	ovary
47	chr12:56347000-56359600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:56347200-56349800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr12:56347200-56350000	Weak transcription	NHLF	lung
50	chr12:56347200-56350200	Weak transcription	NHDF-Ad	bronchial

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