Variant report

Variant	rs506875
Chromosome Location	chr7:16632561-16632562
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16433382..16436329-chr7:16629318..16633087,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4719472	0.82[MEX][hapmap]
rs4721517	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs476489	0.96[GIH][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs481026	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs481543	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs503157	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs504927	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs506640	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs511938	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs514114	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs516038	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs517203	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs541797	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs561370	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs568211	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6942828	1.00[CHB][hapmap];0.96[CHD][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.89[ASN][1000 genomes]

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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv887758	chr7:16632561-16668034	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16622200-16635000	Weak transcription	K562	blood
2	chr7:16624000-16645600	Weak transcription	Gastric	stomach
3	chr7:16626000-16638000	Weak transcription	Fetal Stomach	stomach
4	chr7:16626400-16639400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:16626600-16637800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:16627000-16637800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:16627400-16633800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr7:16627600-16635200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:16627800-16633800	Weak transcription	Osteobl	bone
10	chr7:16627800-16637800	Weak transcription	Fetal Muscle Leg	muscle
11	chr7:16627800-16639400	Weak transcription	Brain Germinal Matrix	brain
12	chr7:16627800-16640200	Weak transcription	Fetal Brain Female	brain
13	chr7:16627800-16640200	Weak transcription	Right Ventricle	heart
14	chr7:16627800-16654200	Weak transcription	Brain Angular Gyrus	brain
15	chr7:16628000-16637800	Weak transcription	Adipose Nuclei	Adipose
16	chr7:16628200-16639000	Weak transcription	Left Ventricle	heart
17	chr7:16628400-16639000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr7:16629400-16634200	Weak transcription	Pancreas	Pancrea
19	chr7:16629600-16642400	Weak transcription	Fetal Brain Male	brain
20	chr7:16629800-16638800	Weak transcription	Aorta	Aorta
21	chr7:16630000-16638000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr7:16630400-16633800	Weak transcription	Hela-S3	cervix
23	chr7:16630400-16634000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:16630400-16638000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr7:16630400-16640600	Weak transcription	A549	lung
26	chr7:16630400-16643000	Weak transcription	HUVEC	blood vessel
27	chr7:16630600-16637800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr7:16630600-16637800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr7:16630600-16639400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr7:16630600-16640800	Weak transcription	Fetal Heart	heart
31	chr7:16630800-16638400	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:16630800-16643000	Weak transcription	Thymus	Thymus
33	chr7:16631000-16633600	Weak transcription	Stomach Mucosa	stomach
34	chr7:16631200-16634000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:16631200-16635000	Weak transcription	Fetal Intestine Small	intestine
36	chr7:16632000-16638000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:16632200-16632800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:16632200-16633600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:16632200-16640200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr7:16632400-16634000	Weak transcription	Fetal Intestine Large	intestine
41	chr7:16632400-16637800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:16632400-16638200	Weak transcription	Psoas Muscle	Psoas
43	chr7:16632400-16639200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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