Variant report

Variant	rs6806857
Chromosome Location	chr3:194792526-194792527
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:194789447..194796347-chr3:194796697..194800807,6	K562	blood:
2	chr3:194784787..194787485-chr3:194789648..194792559,2	K562	blood:
3	chr3:194783239..194785718-chr3:194791860..194793438,2	MCF-7	breast:
4	chr3:194792118..194794871-chr3:194805325..194806994,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1389726	0.84[ASN][1000 genomes]
rs3796159	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs55781130	0.96[ASN][1000 genomes]
rs55889329	0.96[ASN][1000 genomes]
rs55912217	0.98[ASN][1000 genomes]
rs55958301	0.96[ASN][1000 genomes]
rs56180618	0.96[ASN][1000 genomes]
rs56324901	0.96[ASN][1000 genomes]
rs56334245	0.96[ASN][1000 genomes]
rs56343680	0.96[ASN][1000 genomes]
rs57087537	0.96[ASN][1000 genomes]
rs58473654	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61376994	0.96[ASN][1000 genomes]
rs6437453	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6437454	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66488008	0.96[ASN][1000 genomes]
rs66707405	0.95[ASN][1000 genomes]
rs67300447	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6780281	0.90[ASN][1000 genomes]
rs6780283	0.89[ASN][1000 genomes]
rs6787005	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6787114	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6794037	0.97[ASN][1000 genomes]
rs6794986	0.93[ASN][1000 genomes]
rs6797948	0.93[ASN][1000 genomes]
rs6801456	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9861985	0.84[ASN][1000 genomes]
rs9883940	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	esv1813153	chr3:194754532-194851746	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv878136	chr3:194779412-194845226	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194779000-194808000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:194780200-194800000	Weak transcription	Right Atrium	heart
3	chr3:194781000-194808000	Weak transcription	Colonic Mucosa	Colon
4	chr3:194783600-194801400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:194784000-194797800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:194784200-194797400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:194785200-194796600	Weak transcription	NHLF	lung
8	chr3:194785400-194793400	Weak transcription	Left Ventricle	heart
9	chr3:194785400-194799200	Weak transcription	Pancreas	Pancrea
10	chr3:194785600-194801400	Weak transcription	Fetal Lung	lung
11	chr3:194785600-194801600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr3:194785600-194802000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:194786000-194796600	Weak transcription	Primary B cells from cord blood	blood
14	chr3:194786000-194800400	Weak transcription	GM12878-XiMat	blood
15	chr3:194787200-194800000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr3:194787400-194793800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:194787400-194795200	Strong transcription	Fetal Stomach	stomach
18	chr3:194787600-194792600	Weak transcription	Brain Angular Gyrus	brain
19	chr3:194787600-194801000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr3:194787800-194794000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr3:194788600-194794000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:194789000-194796800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:194789400-194793400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:194789600-194793400	Strong transcription	Spleen	Spleen
25	chr3:194789800-194800000	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:194790000-194793600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:194790400-194796400	Weak transcription	Ovary	ovary
28	chr3:194790400-194808000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr3:194790600-194792600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr3:194790600-194793000	Enhancers	Fetal Intestine Large	intestine
31	chr3:194790600-194793000	Genic enhancers	Fetal Intestine Small	intestine
32	chr3:194790600-194794800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:194790600-194795400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:194790600-194795400	Weak transcription	Thymus	Thymus
35	chr3:194790600-194796200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr3:194790600-194796200	Weak transcription	Dnd41	blood
37	chr3:194790600-194796400	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr3:194790600-194796600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr3:194790600-194796600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr3:194790600-194797200	Weak transcription	Placenta	Placenta
41	chr3:194790600-194797400	Weak transcription	Brain Anterior Caudate	brain
42	chr3:194790600-194797400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr3:194790600-194798000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:194790600-194798200	Weak transcription	Aorta	Aorta
45	chr3:194790600-194800000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr3:194790600-194800200	Weak transcription	Adipose Nuclei	Adipose
47	chr3:194790600-194800600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr3:194790600-194801000	Weak transcription	Brain Hippocampus Middle	brain
49	chr3:194790600-194801600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr3:194790600-194801800	Weak transcription	Colon Smooth Muscle	Colon

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