Variant report

Variant	rs6756672
Chromosome Location	chr2:10925561-10925562
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10924985..10929288-chr2:10932246..10936170,4	MCF-7	breast:
2	chr2:10925512..10928400-chr2:10950746..10952997,2	K562	blood:
3	chr2:10918202..10921722-chr2:10922034..10926005,5	K562	blood:
4	chr2:10923480..10926875-chr2:10926902..10929913,3	K562	blood:
5	chr2:10913076..10914716-chr2:10924054..10926494,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143882	Chromatin interaction
ENSG00000143870	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10520049	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs11489	1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs11683190	1.00[CHB][hapmap]
rs11686660	1.00[CHB][hapmap]
rs12617440	0.80[EUR][1000 genomes]
rs13415153	1.00[CHB][hapmap]
rs17364770	0.84[EUR][1000 genomes]
rs17364812	0.80[EUR][1000 genomes]
rs17365015	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs17455876	0.83[EUR][1000 genomes]
rs2029426	1.00[CHB][hapmap]
rs4669616	1.00[CHB][hapmap]
rs6714903	0.84[EUR][1000 genomes]
rs6718547	0.84[EUR][1000 genomes]
rs6722515	1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs6756520	1.00[CHB][hapmap];0.86[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	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv580968	chr2:10923268-10933249	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6756672	PDIA6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10914600-10931600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:10915600-10939800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:10915600-10950400	Weak transcription	Right Atrium	heart
4	chr2:10915800-10929000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:10916200-10939200	Strong transcription	Fetal Stomach	stomach
6	chr2:10916400-10928600	Strong transcription	Fetal Intestine Small	intestine
7	chr2:10916400-10931200	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr2:10916400-10931600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:10916400-10938600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:10916600-10943800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:10916800-10933800	Strong transcription	Spleen	Spleen
12	chr2:10916800-10937400	Strong transcription	Lung	lung
13	chr2:10916800-10942400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:10917000-10926600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:10917000-10930400	Strong transcription	GM12878-XiMat	blood
16	chr2:10917000-10930600	Strong transcription	NHEK	skin
17	chr2:10917000-10933600	Strong transcription	Primary T cells from cord blood	blood
18	chr2:10917000-10939400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:10917200-10925800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:10917200-10929000	Strong transcription	Duodenum Mucosa	Duodenum
21	chr2:10917200-10931000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr2:10917200-10931000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:10917200-10933400	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:10917200-10933400	Strong transcription	NHLF	lung
25	chr2:10917200-10934200	Strong transcription	Adipose Nuclei	Adipose
26	chr2:10917200-10937800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr2:10917200-10937800	Strong transcription	Thymus	Thymus
28	chr2:10917200-10939000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:10917200-10942800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:10917200-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:10917200-10943200	Strong transcription	Fetal Thymus	thymus
32	chr2:10917400-10930400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr2:10917400-10941200	Strong transcription	Liver	Liver
34	chr2:10917400-10942400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr2:10917600-10930400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:10917600-10930600	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:10917600-10939200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:10917600-10943200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:10917600-10943200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:10917600-10943200	Strong transcription	Fetal Muscle Leg	muscle
41	chr2:10917800-10937800	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:10917800-10942800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr2:10917800-10943200	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:10917800-10943200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr2:10917800-10943200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:10917800-10944400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:10918000-10925800	Strong transcription	Gastric	stomach
48	chr2:10918000-10929200	Strong transcription	Colonic Mucosa	Colon
49	chr2:10918000-10938200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr2:10918000-10942400	Strong transcription	H1 Cell Line	embryonic stem cell

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