Variant report

Variant	rs17254348
Chromosome Location	chr6:80747937-80747938
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16891457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17239632	1.00[CHB][hapmap]
rs1927429	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];1.00[MEX][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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3799495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41463544	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs45437302	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs45452496	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	0.91[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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58898479	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59586645	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59990086	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60216617	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60336899	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73477925	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73747925	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	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73747963	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[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv5370	chr6:80715351-80751740	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80715000-80748000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr6:80715000-80752200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:80715000-80752400	Weak transcription	Placenta	Placenta
4	chr6:80715200-80749600	Weak transcription	Fetal Intestine Small	intestine
5	chr6:80715200-80752000	Weak transcription	Primary B cells from cord blood	blood
6	chr6:80715200-80752200	Weak transcription	Primary T cells from cord blood	blood
7	chr6:80715400-80755000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr6:80715400-80756800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr6:80715600-80754400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:80715600-80763800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr6:80715800-80753600	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:80715800-80753800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:80715800-80754400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:80716200-80754600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:80716800-80753600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr6:80721600-80760400	Weak transcription	Fetal Kidney	kidney
17	chr6:80722200-80755400	Strong transcription	Dnd41	blood
18	chr6:80723600-80752200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr6:80724000-80749600	Weak transcription	NHLF	lung
20	chr6:80727200-80755200	Weak transcription	Fetal Brain Female	brain
21	chr6:80730200-80749000	Strong transcription	Fetal Thymus	thymus
22	chr6:80730200-80752600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:80730400-80748200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:80730400-80753600	Strong transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:80730400-80753600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:80730600-80753600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:80732000-80748400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:80732000-80749200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr6:80732800-80750200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr6:80732800-80758800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr6:80732800-80762600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:80733800-80748800	Strong transcription	HUVEC	blood vessel
33	chr6:80734800-80758800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr6:80736000-80748800	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr6:80738000-80757600	Weak transcription	Esophagus	oesophagus
36	chr6:80738200-80748400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:80738400-80748400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:80738600-80748800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:80738800-80753400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:80740200-80753600	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr6:80740400-80759200	Weak transcription	Fetal Stomach	stomach
42	chr6:80740600-80758800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr6:80741600-80756800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr6:80742200-80748000	Weak transcription	Thymus	Thymus
45	chr6:80742200-80758600	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:80742400-80755200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:80742400-80760200	Weak transcription	Fetal Muscle Leg	muscle
48	chr6:80743200-80751600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:80743200-80758800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:80743200-80759400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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