Variant report

Variant	rs6105599
Chromosome Location	chr20:16414972-16414973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11905881	1.00[MEX][hapmap]
rs11906521	1.00[MEX][hapmap]
rs11907369	1.00[MEX][hapmap]
rs16997600	1.00[MEX][hapmap]
rs16997624	0.91[AFR][1000 genomes]
rs6105600	1.00[MEX][hapmap];0.85[MKK][hapmap]
rs6105602	0.89[YRI][hapmap];0.91[AFR][1000 genomes]
rs6105604	1.00[MEX][hapmap]
rs6111110	1.00[MEX][hapmap]
rs6111115	1.00[MEX][hapmap]
rs6111122	0.87[YRI][hapmap];0.90[AFR][1000 genomes]
rs6111123	0.85[YRI][hapmap];0.85[AFR][1000 genomes]
rs6111124	0.85[YRI][hapmap];0.85[AFR][1000 genomes]
rs6111127	1.00[ASW][hapmap];1.00[LWK][hapmap];0.87[MKK][hapmap];0.89[YRI][hapmap];0.91[AFR][1000 genomes]
rs6111129	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs6111130	0.89[YRI][hapmap];0.91[AFR][1000 genomes]
rs7268027	0.89[YRI][hapmap]
rs73898755	0.91[AFR][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	nsv833931	chr20:16308276-16460596	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16384000-16432600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr20:16392200-16453000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr20:16398200-16417000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:16398200-16431000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr20:16400000-16440000	Weak transcription	NHEK	skin
6	chr20:16401200-16417000	Weak transcription	Brain Germinal Matrix	brain
7	chr20:16404200-16419200	Weak transcription	Fetal Heart	heart
8	chr20:16404800-16419800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr20:16404800-16425000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr20:16405000-16419200	Weak transcription	A549	lung
11	chr20:16405400-16434600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr20:16405600-16431000	Weak transcription	Pancreas	Pancrea
13	chr20:16408000-16420200	Weak transcription	Primary B cells from cord blood	blood
14	chr20:16408400-16419200	Weak transcription	Psoas Muscle	Psoas
15	chr20:16408400-16424400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr20:16408600-16419600	Weak transcription	Fetal Intestine Small	intestine
17	chr20:16408600-16439200	Weak transcription	Brain Hippocampus Middle	brain
18	chr20:16408800-16424600	Weak transcription	Small Intestine	intestine
19	chr20:16409000-16431200	Weak transcription	Aorta	Aorta
20	chr20:16409200-16439400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr20:16409200-16443600	Weak transcription	Gastric	stomach
22	chr20:16409600-16431000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr20:16409800-16419400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr20:16409800-16419600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr20:16410000-16418400	Weak transcription	Fetal Muscle Leg	muscle
26	chr20:16410000-16419200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr20:16410000-16419200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr20:16410200-16416800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr20:16410200-16419200	Weak transcription	Left Ventricle	heart
30	chr20:16410200-16419600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr20:16410200-16420000	Weak transcription	Fetal Intestine Large	intestine
32	chr20:16410200-16424400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr20:16410200-16437400	Weak transcription	Esophagus	oesophagus
34	chr20:16410200-16455800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr20:16410200-16473200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr20:16410400-16424600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr20:16410400-16431000	Weak transcription	Liver	Liver
38	chr20:16410600-16415600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr20:16410600-16425200	Weak transcription	Stomach Smooth Muscle	stomach
40	chr20:16410600-16455400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr20:16411000-16424400	Weak transcription	Adipose Nuclei	Adipose
42	chr20:16411200-16439200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr20:16411200-16440000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr20:16411200-16455200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr20:16411400-16418400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr20:16411400-16419800	Weak transcription	Primary T cells from cord blood	blood
47	chr20:16412800-16415200	Enhancers	Fetal Kidney	kidney
48	chr20:16413000-16415200	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr20:16414000-16415000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr20:16414000-16415000	Weak transcription	HUES64 Cell Line	embryonic stem cell

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