Variant report

Variant	rs7744392
Chromosome Location	chr6:35322763-35322764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35322678..35326427-chr6:35328080..35332051,5	K562	blood:
2	chr6:35322565..35324918-chr6:35326260..35328073,2	K562	blood:
3	chr6:35312327..35314525-chr6:35320583..35322844,2	K562	blood:
4	chr6:35322565..35326076-chr6:35326260..35332051,7	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11961212	1.00[CHB][hapmap]
rs13362808	0.86[EUR][1000 genomes]
rs16868695	1.00[GIH][hapmap];0.88[TSI][hapmap]
rs16874216	1.00[GIH][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs34474204	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45482297	0.80[EUR][1000 genomes]
rs56987668	1.00[ASN][1000 genomes]
rs57060566	0.80[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs58114880	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59654131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61280851	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61333739	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61562178	1.00[ASN][1000 genomes]
rs6457820	0.83[ASN][1000 genomes]
rs6915115	1.00[CHB][hapmap]
rs6915410	0.86[EUR][1000 genomes]
rs6934083	1.00[GIH][hapmap];0.88[TSI][hapmap]
rs6938138	1.00[GIH][hapmap];0.88[TSI][hapmap]
rs6939017	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73409710	0.80[EUR][1000 genomes]
rs73409758	0.80[EUR][1000 genomes]
rs73411747	0.93[EUR][1000 genomes]
rs7750906	1.00[CHB][hapmap]
rs7758272	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771323	1.00[CHB][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9658058	1.00[ASN][1000 genomes]
rs9658061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9658067	0.89[EUR][1000 genomes]
rs9658080	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9658108	1.00[CHB][hapmap]
rs9942488	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9942489	1.00[CHB][hapmap];0.88[YRI][hapmap];1.00[ASN][1000 genomes]
rs9942501	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[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	nsv830641	chr6:35282534-35440603	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	57 gene(s)	inside rSNPs	diseases
2	nsv885798	chr6:35318784-35329406	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Cataracts in type 2 diabetes	23137000	GWAS catalog

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35311400-35323800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr6:35311400-35326800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:35311600-35323800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:35311600-35324200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:35311600-35327600	Weak transcription	A549	lung
6	chr6:35311800-35324000	Weak transcription	Right Atrium	heart
7	chr6:35311800-35331000	Weak transcription	Hela-S3	cervix
8	chr6:35312000-35328200	Weak transcription	Stomach Mucosa	stomach
9	chr6:35312200-35326400	Weak transcription	Fetal Brain Female	brain
10	chr6:35312600-35324600	Weak transcription	Brain Germinal Matrix	brain
11	chr6:35312600-35324800	Weak transcription	Fetal Heart	heart
12	chr6:35312800-35326800	Weak transcription	Fetal Brain Male	brain
13	chr6:35312800-35327400	Strong transcription	Fetal Stomach	stomach
14	chr6:35313000-35335600	Weak transcription	Small Intestine	intestine
15	chr6:35313800-35325200	Strong transcription	Liver	Liver
16	chr6:35314000-35325800	Strong transcription	Adipose Nuclei	Adipose
17	chr6:35314800-35325600	Strong transcription	Placenta	Placenta
18	chr6:35314800-35327000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:35315000-35325600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr6:35315200-35323800	Weak transcription	Brain Angular Gyrus	brain
21	chr6:35315200-35326800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr6:35316000-35328600	Strong transcription	Duodenum Mucosa	Duodenum
23	chr6:35316600-35323200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:35316600-35324800	Strong transcription	Fetal Muscle Leg	muscle
25	chr6:35316800-35323800	Weak transcription	Pancreas	Pancrea
26	chr6:35316800-35324000	Weak transcription	Aorta	Aorta
27	chr6:35316800-35326800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr6:35316800-35327000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:35316800-35327200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr6:35316800-35330000	Strong transcription	Fetal Intestine Small	intestine
31	chr6:35317400-35323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr6:35317400-35323800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr6:35317400-35323800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr6:35317400-35324800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr6:35317400-35333000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:35317600-35323800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr6:35319000-35325200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr6:35319000-35325800	Strong transcription	Fetal Lung	lung
39	chr6:35319000-35326000	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr6:35319000-35326600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr6:35319200-35322800	Strong transcription	Ovary	ovary
42	chr6:35319200-35325000	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:35319200-35325000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr6:35319200-35325200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:35319200-35325200	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr6:35319200-35325200	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr6:35319200-35325400	Strong transcription	Dnd41	blood
48	chr6:35319200-35326000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr6:35319200-35326400	Strong transcription	Fetal Intestine Large	intestine
50	chr6:35319200-35326400	Strong transcription	Rectal Mucosa Donor 29	rectum

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