Variant report

Variant	rs1973889
Chromosome Location	chr6:27640004-27640005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27638059..27640499-chr6:27771985..27774359,2	MCF-7	breast:
2	chr6:27635682..27638550-chr6:27638732..27640689,2	K562	blood:
3	chr6:27521716..27523597-chr6:27638518..27641412,2	K562	blood:
4	chr6:27514797..27517693-chr6:27638878..27641841,2	K562	blood:
5	chr6:27638628..27643322-chr6:27645901..27648389,5	K562	blood:
6	chr6:27520667..27523597-chr6:27638518..27640163,2	K562	blood:
7	chr6:27630813..27632433-chr6:27638083..27640183,2	K562	blood:
8	chr6:27638960..27640741-chr6:27721974..27723507,2	K562	blood:
9	chr6:27638511..27640202-chr6:27651089..27652641,2	K562	blood:
10	chr6:27635489..27641593-chr6:27648456..27655439,10	K562	blood:
11	chr6:27638340..27640249-chr6:27659440..27661461,2	K562	blood:
12	chr6:27638297..27640693-chr6:27651718..27653720,2	MCF-7	breast:

No data

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10484400	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10946943	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1157432	0.95[EUR][1000 genomes]
rs12055685	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12173985	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12174087	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12663707	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12664599	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1555021	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867886	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867916	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16867921	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16867976	0.91[EUR][1000 genomes]
rs16867983	0.91[EUR][1000 genomes]
rs56408767	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59893892	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60096640	0.89[EUR][1000 genomes]
rs6906653	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6920044	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73385147	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73385152	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73385154	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73739763	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7753236	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs878241	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9348771	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9348777	0.91[EUR][1000 genomes]
rs9348778	0.83[EUR][1000 genomes]
rs9357043	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357044	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9357048	0.91[EUR][1000 genomes]
rs9368517	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9368521	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9368524	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9368525	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9368526	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9379995	0.90[ASN][1000 genomes]
rs9380000	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380001	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9380005	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9393832	0.93[ASN][1000 genomes]
rs9393835	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9393836	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9393838	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9393839	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9393842	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9393843	0.86[ASN][1000 genomes]
rs9393849	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9393852	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9393856	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv525669	chr6:27623511-27657647	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv883511	chr6:27623511-27660508	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2830157	chr6:27634640-27657647	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv518945	chr6:27634640-27668013	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27634600-27640800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:27634800-27641400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:27635200-27641200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:27637800-27640600	Active TSS	Ovary	ovary
5	chr6:27638000-27640200	Enhancers	Adipose Nuclei	Adipose
6	chr6:27638000-27640400	Weak transcription	Right Atrium	heart
7	chr6:27638000-27640600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:27638000-27640800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:27638000-27641200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:27638000-27641200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:27638000-27641400	Active TSS	H9 Cell Line	embryonic stem cell
12	chr6:27638200-27641400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr6:27638400-27640400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:27638400-27641200	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr6:27638400-27641400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr6:27638400-27641400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr6:27638600-27641000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:27638800-27640800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:27638800-27640800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:27639200-27640200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
21	chr6:27639400-27640200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
22	chr6:27639400-27640600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:27639400-27640600	Active TSS	Osteobl	bone
24	chr6:27639400-27640800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:27639400-27640800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
26	chr6:27639600-27640200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
27	chr6:27639600-27640400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
28	chr6:27639600-27640600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:27639600-27640800	Active TSS	Hela-S3	cervix
30	chr6:27639600-27641000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:27639600-27641200	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr6:27639600-27641400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr6:27639600-27641400	Active TSS	A549	lung
34	chr6:27639600-27641600	Active TSS	K562	blood
35	chr6:27639800-27640200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr6:27639800-27640200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
37	chr6:27639800-27640200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr6:27639800-27640200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
39	chr6:27639800-27640200	Active TSS	GM12878-XiMat	blood
40	chr6:27639800-27640400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
41	chr6:27639800-27640400	Active TSS	HepG2	liver
42	chr6:27639800-27640600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
43	chr6:27639800-27640600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
44	chr6:27639800-27640800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:27639800-27640800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr6:27639800-27640800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:27639800-27640800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr6:27639800-27640800	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr6:27639800-27641000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:27639800-27641000	Active TSS	HMEC	breast

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