Variant report

Variant	rs6734180
Chromosome Location	chr2:32223456-32223457
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:32221278..32225713-chr2:32230475..32236005,8	K562	blood:
2	chr2:32204041..32206611-chr2:32221999..32224174,3	K562	blood:
3	chr2:32221313..32224221-chr2:32225897..32229048,4	K562	blood:

Variant related genes	Relation type
ENSG00000162959	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12474659	1.00[ASW][hapmap]
rs13011700	1.00[ASW][hapmap];0.85[CHD][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap]
rs13012667	0.92[ASN][1000 genomes]
rs34916668	1.00[AFR][1000 genomes]
rs35169556	1.00[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs35410657	1.00[AFR][1000 genomes]
rs35433063	1.00[AFR][1000 genomes]
rs35479389	1.00[MKK][hapmap]
rs71446029	1.00[AFR][1000 genomes]
rs71446030	1.00[AFR][1000 genomes]
rs71446031	1.00[AFR][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	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6734180	RNF128	trans	cerebellum	SCAN
rs6734180	RBKS	cis	cerebellum	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32168400-32233400	Weak transcription	Fetal Stomach	stomach
2	chr2:32171000-32227600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:32191600-32234200	Weak transcription	Lung	lung
4	chr2:32202400-32233600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:32206400-32232200	Weak transcription	Fetal Lung	lung
6	chr2:32206400-32233200	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:32206600-32234000	Weak transcription	Stomach Mucosa	stomach
8	chr2:32206800-32223600	Weak transcription	Primary B cells from cord blood	blood
9	chr2:32206800-32230800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:32208000-32225800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:32209600-32225600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:32211000-32232800	Weak transcription	Fetal Intestine Small	intestine
13	chr2:32212400-32224400	Weak transcription	Left Ventricle	heart
14	chr2:32213200-32232200	Weak transcription	NHDF-Ad	bronchial
15	chr2:32213400-32227600	Weak transcription	NHEK	skin
16	chr2:32213400-32231200	Weak transcription	NHLF	lung
17	chr2:32216400-32227600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:32216600-32233200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:32216800-32230400	Weak transcription	Fetal Brain Female	brain
20	chr2:32218200-32224600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:32218800-32229600	Weak transcription	Psoas Muscle	Psoas
22	chr2:32218800-32233200	Weak transcription	Small Intestine	intestine
23	chr2:32220000-32225400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:32220600-32223600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:32221200-32225200	Enhancers	Primary B cells from peripheral blood	blood
26	chr2:32221800-32223800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:32221800-32224400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:32221800-32225200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:32222000-32225200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr2:32222000-32230600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:32222200-32225000	Enhancers	Primary T cells from cord blood	blood
32	chr2:32222400-32223600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:32222400-32225200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr2:32222600-32224200	Enhancers	Thymus	Thymus
35	chr2:32222600-32224600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr2:32222600-32224600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:32222600-32224600	Enhancers	Dnd41	blood
38	chr2:32222600-32224800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr2:32222600-32224800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:32222600-32225000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:32222600-32225200	Enhancers	K562	blood
42	chr2:32222800-32224800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr2:32222800-32227600	Weak transcription	HMEC	breast
44	chr2:32222800-32233200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:32223000-32223800	Enhancers	Primary T cells fromperipheralblood	blood
46	chr2:32223000-32224400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr2:32223000-32224600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:32223000-32224800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:32223000-32227600	Weak transcription	Liver	Liver
50	chr2:32223000-32231000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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