Variant report

Variant	rs16891457
Chromosome Location	chr6:80754346-80754347
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10485141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10485142	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151655	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17239632	1.00[CHB][hapmap]
rs17254348	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1927429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2273753	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295839	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3799493	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799494	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799495	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41463544	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs45437302	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs45452496	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4706825	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56970160	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57260355	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58056450	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58183467	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58898479	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59586645	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59990086	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60216617	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60336899	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6936226	1.00[JPT][hapmap]
rs73477925	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73747925	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73747932	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73747936	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73747959	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73747961	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73747963	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73747975	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73748000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771645	1.00[JPT][hapmap]

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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv886306	chr6:80724666-80754346	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv886307	chr6:80724666-80765111	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv886308	chr6:80734870-80765111	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	2 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	chr6:80715400-80755000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr6:80715400-80756800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:80715600-80754400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:80715600-80763800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:80715800-80754400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:80716200-80754600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:80721600-80760400	Weak transcription	Fetal Kidney	kidney
8	chr6:80722200-80755400	Strong transcription	Dnd41	blood
9	chr6:80727200-80755200	Weak transcription	Fetal Brain Female	brain
10	chr6:80732800-80758800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr6:80732800-80762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:80734800-80758800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:80738000-80757600	Weak transcription	Esophagus	oesophagus
14	chr6:80740400-80759200	Weak transcription	Fetal Stomach	stomach
15	chr6:80740600-80758800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:80741600-80756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:80742200-80758600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:80742400-80755200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:80742400-80760200	Weak transcription	Fetal Muscle Leg	muscle
20	chr6:80743200-80758800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:80743200-80759400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:80744600-80758200	Weak transcription	NHEK	skin
23	chr6:80745800-80754600	Weak transcription	Fetal Intestine Large	intestine
24	chr6:80747000-80755000	Weak transcription	Fetal Lung	lung
25	chr6:80748200-80756400	Weak transcription	Thymus	Thymus
26	chr6:80748200-80756600	Weak transcription	A549	lung
27	chr6:80748400-80758400	Weak transcription	HMEC	breast
28	chr6:80748400-80759200	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:80749800-80757200	Strong transcription	Fetal Thymus	thymus
30	chr6:80750400-80754400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr6:80750800-80755200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr6:80751000-80754600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:80751000-80758000	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr6:80751000-80758200	Weak transcription	K562	blood
35	chr6:80751000-80758400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr6:80751000-80764800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:80751000-80766200	Weak transcription	NHLF	lung
38	chr6:80751200-80756600	Weak transcription	GM12878-XiMat	blood
39	chr6:80751200-80758600	Weak transcription	NHDF-Ad	bronchial
40	chr6:80751800-80758600	Weak transcription	Hela-S3	cervix
41	chr6:80752800-80763400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:80753000-80757600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:80753200-80765400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:80753200-80772200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:80753400-80756000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr6:80753400-80758600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr6:80753600-80756200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr6:80753600-80756400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr6:80753600-80756400	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr6:80753600-80756400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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