Variant report

Variant	rs6911121
Chromosome Location	chr6:13644160-13644161
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:13622245..13624613-chr6:13641011..13644598,3	K562	blood:
2	chr6:13614062..13615646-chr6:13642570..13644514,2	K562	blood:
3	chr6:13642074..13646746-chr6:13710307..13713683,4	K562	blood:
4	chr6:13641812..13646740-chr6:13710495..13713683,5	K562	blood:
5	chr6:13643256..13646012-chr6:13673649..13676067,2	K562	blood:
6	chr6:13644070..13647377-chr6:13677584..13680822,4	K562	blood:
7	chr6:13639950..13644495-chr6:13710615..13714647,5	MCF-7	breast:
8	chr6:13641445..13646183-chr6:13647166..13651436,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000252966	Chromatin interaction
ENSG00000010017	Chromatin interaction
ENSG00000225921	Chromatin interaction
ENSG00000261071	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10484251	0.84[CHB][hapmap]
rs10948811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753232	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs11755634	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11759518	0.84[CHB][hapmap]
rs11970591	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1362519	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1362520	0.92[CEU][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1573702	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2071836	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2080415	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2237092	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2299026	0.82[CHB][hapmap]
rs2299027	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs3846912	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3906327	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4715455	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4715512	0.84[CHB][hapmap]
rs59120082	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6458997	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6459003	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6459020	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6459025	0.93[ASW][hapmap];0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6915775	0.87[ASW][hapmap];0.88[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.92[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6940759	0.96[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72829117	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72831038	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7741241	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744218	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9475276	0.83[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532021	chr6:13232627-13805381	Active TSS Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1016744	chr6:13622143-13664028	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1019422	chr6:13622143-13694781	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv1026597	chr6:13634669-13689882	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6911121	SIRT5	cis	cerebellum	SCAN
rs6911121	RANBP9	cis	cerebellum	SCAN
rs6911121	HIVEP1	cis	parietal	SCAN
rs6911121	CAP2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13618000-13644200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr6:13618200-13644400	Strong transcription	K562	blood
3	chr6:13618200-13661200	Weak transcription	Fetal Brain Male	brain
4	chr6:13620000-13647200	Strong transcription	Dnd41	blood
5	chr6:13620000-13649600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:13620400-13660400	Weak transcription	Pancreas	Pancrea
7	chr6:13620600-13691000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:13623600-13656200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr6:13625400-13660400	Weak transcription	Gastric	stomach
10	chr6:13626000-13660400	Weak transcription	Lung	lung
11	chr6:13626600-13667800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:13626800-13669000	Weak transcription	Brain Anterior Caudate	brain
13	chr6:13632000-13660400	Weak transcription	Psoas Muscle	Psoas
14	chr6:13632600-13656000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:13632800-13645200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:13632800-13653800	Weak transcription	Hela-S3	cervix
17	chr6:13634000-13644600	Strong transcription	Primary B cells from peripheral blood	blood
18	chr6:13636400-13645000	Strong transcription	Placenta	Placenta
19	chr6:13636800-13652800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:13637200-13650600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr6:13637400-13644400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:13637400-13645000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:13637400-13660400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:13637600-13644400	Strong transcription	Primary T cells from cord blood	blood
25	chr6:13637800-13645000	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr6:13637800-13652400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr6:13638000-13661400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr6:13638800-13655000	Weak transcription	Fetal Kidney	kidney
29	chr6:13638800-13657000	Weak transcription	Fetal Heart	heart
30	chr6:13638800-13657800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr6:13638800-13657800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr6:13638800-13659400	Weak transcription	Brain Angular Gyrus	brain
33	chr6:13639000-13652000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:13639000-13654800	Weak transcription	NHLF	lung
35	chr6:13639000-13660400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:13639000-13660600	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:13639200-13651000	Weak transcription	Left Ventricle	heart
38	chr6:13639200-13658200	Weak transcription	Colonic Mucosa	Colon
39	chr6:13639200-13660400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr6:13639200-13662600	Weak transcription	Esophagus	oesophagus
41	chr6:13639400-13650600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:13639400-13650600	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:13639400-13650800	Weak transcription	HSMMtube	muscle
44	chr6:13639400-13660400	Weak transcription	Ovary	ovary
45	chr6:13639400-13660600	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:13639400-13662000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr6:13639400-13666000	Weak transcription	Fetal Brain Female	brain
48	chr6:13639400-13667200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:13639600-13650600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr6:13639600-13662600	Weak transcription	Aorta	Aorta

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