Variant report

Variant	rs4490642
Chromosome Location	chr6:166948067-166948068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11961434	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11962987	0.91[AMR][1000 genomes]
rs11963778	0.81[AMR][1000 genomes]
rs11963921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11964417	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11970618	0.81[AMR][1000 genomes]
rs16899058	0.91[AMR][1000 genomes]
rs16899071	0.91[AMR][1000 genomes]
rs16899080	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16899084	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16899091	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs16899093	0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs16899098	0.91[AMR][1000 genomes]
rs16899101	0.85[YRI][hapmap];0.91[AMR][1000 genomes]
rs16899105	1.00[AMR][1000 genomes]
rs16899123	0.81[AMR][1000 genomes]
rs16899153	0.82[AMR][1000 genomes]
rs2157486	0.91[AMR][1000 genomes]
rs3778414	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57001200	0.82[AMR][1000 genomes]
rs58004496	0.91[AMR][1000 genomes]
rs58032331	0.82[AMR][1000 genomes]
rs59766415	0.91[AMR][1000 genomes]
rs59815364	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6905167	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6909530	0.86[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6936351	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255153	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255165	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255166	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73257231	0.82[AMR][1000 genomes]
rs73257242	0.81[AMR][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	esv3490076	chr6:166727901-167306743	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
2	esv3490077	chr6:166727901-167306743	Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
3	nsv886941	chr6:166907173-166996991	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv605259	chr6:166936021-166952981	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:166901000-166954800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:166902200-166954400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr6:166902600-166952800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr6:166913000-166952000	Weak transcription	Primary T cells from cord blood	blood
5	chr6:166916200-166954200	Weak transcription	Right Atrium	heart
6	chr6:166923800-166953000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr6:166929600-166954000	Weak transcription	HSMM	muscle
8	chr6:166929600-166955600	Weak transcription	HMEC	breast
9	chr6:166930400-166954200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:166930400-166957800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:166932400-166948600	Weak transcription	Primary B cells from cord blood	blood
12	chr6:166932600-166953800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:166933200-166953200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:166933800-166953400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:166935400-166952000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr6:166935400-166966400	Weak transcription	NH-A	brain
17	chr6:166938200-166948800	Weak transcription	HUVEC	blood vessel
18	chr6:166938200-166955800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:166940800-166953000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr6:166941000-166954600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr6:166941400-166954600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:166941400-166955600	Weak transcription	Colon Smooth Muscle	Colon
23	chr6:166941800-166954800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr6:166942400-166954200	Weak transcription	NHEK	skin
25	chr6:166942800-166951600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr6:166942800-166952800	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr6:166942800-166953200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr6:166943000-166953000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr6:166943200-166950200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr6:166943200-166950200	Strong transcription	Stomach Smooth Muscle	stomach
31	chr6:166943200-166951400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr6:166943200-166952000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:166943200-166952200	Strong transcription	Fetal Muscle Leg	muscle
34	chr6:166943200-166952400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:166943400-166949800	Strong transcription	Right Ventricle	heart
36	chr6:166943400-166951600	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:166943400-166952200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr6:166943400-166952800	Strong transcription	Fetal Stomach	stomach
39	chr6:166943400-166953600	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:166943600-166952000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:166943600-166952200	Strong transcription	Left Ventricle	heart
42	chr6:166943600-166953400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:166943800-166948600	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr6:166943800-166949800	Strong transcription	NHLF	lung
45	chr6:166943800-166952000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:166944000-166952400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:166944200-166951400	Weak transcription	Fetal Intestine Large	intestine
48	chr6:166944200-166954800	Weak transcription	Stomach Mucosa	stomach
49	chr6:166944400-166948200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr6:166944400-166954800	Weak transcription	Colonic Mucosa	Colon

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