Variant report

Variant	rs7744218
Chromosome Location	chr6:13681315-13681316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13574510..13576795-chr6:13678124..13681559,3	K562	blood:
2	chr6:13572493..13576795-chr6:13677578..13681816,6	K562	blood:
3	chr6:13658437..13687167-chr6:13707669..13717356,51	K562	blood:
4	chr6:13677099..13683232-chr6:13708060..13717356,16	K562	blood:
5	chr6:13612983..13618304-chr6:13679034..13683117,5	K562	blood:

Variant related genes	Relation type
ENSG00000225921	Chromatin interaction
ENSG00000261071	Chromatin interaction
ENSG00000124523	Chromatin interaction
ENSG00000010017	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10484251	0.84[CHB][hapmap]
rs10807467	0.93[YRI][hapmap]
rs10948804	0.96[YRI][hapmap]
rs10948811	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11753232	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs11755634	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11759518	0.84[CHB][hapmap]
rs11962124	0.93[YRI][hapmap]
rs11970591	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362519	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1362520	1.00[ASW][hapmap];0.96[CEU][hapmap];0.80[GIH][hapmap];0.99[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1573702	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2071836	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2080415	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2237092	0.96[CEU][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2299026	0.82[CHB][hapmap]
rs2299027	0.84[CHB][hapmap];0.82[CHD][hapmap]
rs2841514	0.89[YRI][hapmap]
rs2841517	0.89[YRI][hapmap]
rs3757260	0.93[YRI][hapmap]
rs3800503	0.93[YRI][hapmap]
rs3846912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3906327	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4715455	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4715512	0.84[CHB][hapmap]
rs59120082	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6458997	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6459003	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6459020	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459025	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6899402	0.89[YRI][hapmap]
rs6911121	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]
rs6915775	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.81[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6940759	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.96[LWK][hapmap];0.83[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72829117	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72831038	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7741241	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9475276	0.83[CHB][hapmap]

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	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	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
3	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7744218	SIRT5	cis	cerebellum	SCAN
rs7744218	RANBP9	cis	cerebellum	SCAN
rs7744218	HIVEP1	cis	parietal	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13620600-13691000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:13654600-13689800	Weak transcription	Osteobl	bone
3	chr6:13660800-13688000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr6:13665600-13695200	Weak transcription	NHLF	lung
5	chr6:13667600-13695800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:13668200-13694600	Weak transcription	NHDF-Ad	bronchial
7	chr6:13668600-13684200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:13668800-13694800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr6:13670000-13701600	Weak transcription	Esophagus	oesophagus
10	chr6:13672400-13688200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr6:13673400-13695800	Weak transcription	Brain Angular Gyrus	brain
12	chr6:13675200-13689600	Weak transcription	Aorta	Aorta
13	chr6:13677400-13688800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:13677400-13693200	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:13677800-13699200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:13678000-13681400	Strong transcription	Dnd41	blood
17	chr6:13678000-13687200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr6:13678200-13681400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr6:13678200-13681600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr6:13678200-13692400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr6:13678400-13681600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr6:13678800-13681400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr6:13678800-13681400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:13678800-13688800	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:13679000-13686600	Weak transcription	Ovary	ovary
26	chr6:13679000-13686800	Weak transcription	Psoas Muscle	Psoas
27	chr6:13679000-13688200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:13679000-13688200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:13679000-13690000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr6:13679000-13690000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:13679000-13691000	Weak transcription	Left Ventricle	heart
32	chr6:13679000-13691600	Weak transcription	Duodenum Mucosa	Duodenum
33	chr6:13679000-13692000	Weak transcription	Placenta	Placenta
34	chr6:13679000-13694800	Weak transcription	Small Intestine	intestine
35	chr6:13679000-13695600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:13679000-13695800	Weak transcription	Thymus	Thymus
37	chr6:13679000-13695800	Weak transcription	NHEK	skin
38	chr6:13679000-13699800	Weak transcription	Pancreas	Pancrea
39	chr6:13679000-13700400	Weak transcription	Right Ventricle	heart
40	chr6:13679000-13708400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:13679200-13685000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr6:13679200-13692000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:13679200-13694400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr6:13679200-13694800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:13679200-13696800	Weak transcription	Brain Germinal Matrix	brain
46	chr6:13679400-13687800	Weak transcription	HepG2	liver
47	chr6:13679400-13690400	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr6:13679400-13695600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr6:13679600-13703400	Weak transcription	HUVEC	blood vessel
50	chr6:13680000-13681400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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