Variant report

Variant	rs72649459
Chromosome Location	chr8:59750932-59750933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10090233	0.89[EUR][1000 genomes]
rs10099884	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10103680	0.89[EUR][1000 genomes]
rs13251536	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13262120	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16924069	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16924156	0.87[AMR][1000 genomes]
rs34292465	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34855090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35553018	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3780000	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55914621	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56215946	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56390547	1.00[ASN][1000 genomes]
rs62505095	1.00[ASN][1000 genomes]
rs62505114	1.00[ASN][1000 genomes]
rs6471754	0.89[EUR][1000 genomes]
rs72649452	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72649453	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72649470	1.00[ASN][1000 genomes]
rs72649486	1.00[ASN][1000 genomes]
rs72651322	1.00[ASN][1000 genomes]
rs72651344	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59715200-59757400	Weak transcription	Fetal Intestine Large	intestine
2	chr8:59720600-59754800	Weak transcription	Small Intestine	intestine
3	chr8:59720800-59762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:59722400-59757200	Strong transcription	Dnd41	blood
5	chr8:59729600-59754800	Weak transcription	Gastric	stomach
6	chr8:59730800-59770800	Strong transcription	Fetal Thymus	thymus
7	chr8:59732200-59755200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:59739000-59753200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:59745000-59751000	Strong transcription	Primary T cells from cord blood	blood
10	chr8:59745600-59770800	Weak transcription	Fetal Kidney	kidney
11	chr8:59745800-59770800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:59746000-59753800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr8:59746400-59751000	Strong transcription	Thymus	Thymus
14	chr8:59746400-59773200	Weak transcription	Fetal Intestine Small	intestine
15	chr8:59746600-59752800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:59746600-59754800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr8:59746600-59763600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr8:59746800-59763600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:59747000-59755000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr8:59747000-59755800	Weak transcription	Fetal Lung	lung
21	chr8:59747000-59757600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr8:59747200-59754800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:59747400-59751000	Weak transcription	Lung	lung
24	chr8:59747400-59753200	Weak transcription	A549	lung
25	chr8:59747400-59753600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:59747400-59754400	Weak transcription	NH-A	brain
27	chr8:59747400-59754400	Weak transcription	Osteobl	bone
28	chr8:59747400-59754600	Weak transcription	NHLF	lung
29	chr8:59747400-59755200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:59747400-59757800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:59747400-59760400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:59747400-59770800	Weak transcription	Pancreas	Pancrea
33	chr8:59747600-59753800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:59747600-59754400	Weak transcription	NHDF-Ad	bronchial
35	chr8:59747600-59754600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr8:59748200-59751000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr8:59748200-59751000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:59748200-59751000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr8:59748200-59751400	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:59748400-59751000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:59748400-59753600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:59748600-59751000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:59748600-59751000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr8:59748600-59752400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr8:59749200-59757600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:59749200-59762600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr8:59749800-59751000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr8:59749800-59751200	Strong transcription	Primary hematopoietic stem cells	blood
49	chr8:59750800-59752800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr8:59750800-59753200	Weak transcription	Fetal Stomach	stomach

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