Variant report

Variant	rs60096640
Chromosome Location	chr6:27636313-27636314
allele	A/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27636305..27638442-chr6:27804240..27806854,2	K562	blood:
2	chr6:27636299..27636853-chr6:27655225..27655832,2	K562	blood:
3	chr6:27635575..27638134-chr6:27861679..27863418,2	K562	blood:
4	chr6:27635615..27637908-chr6:27648456..27651146,2	K562	blood:
5	chr6:27635541..27637440-chr6:27775758..27778224,2	K562	blood:
6	chr6:27634865..27637483-chr6:27858209..27861197,3	K562	blood:
7	chr6:27632657..27637879-chr6:27644957..27648332,5	K562	blood:
8	chr6:27570023..27571795-chr6:27634776..27636540,2	K562	blood:
9	chr6:27636112..27637828-chr6:27637904..27639437,2	K562	blood:
10	chr6:27154773..27157322-chr6:27634142..27636330,2	MCF-7	breast:
11	chr6:27635682..27638550-chr6:27638732..27640689,2	K562	blood:
12	chr6:27559026..27559950-chr6:27635820..27636482,2	K562	blood:
13	chr6:27635489..27641593-chr6:27648456..27655439,10	K562	blood:
14	chr6:27635070..27638218-chr6:27719785..27722837,4	K562	blood:
15	chr6:27515362..27517557-chr6:27635548..27637860,2	K562	blood:
16	chr6:27635538..27638265-chr6:27781232..27783499,2	MCF-7	breast:
17	chr6:27634605..27637879-chr6:27644998..27648332,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197153	Chromatin interaction
ENSG00000233822	Chromatin interaction
ENSG00000182611	Chromatin interaction
ENSG00000233224	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000184348	Chromatin interaction
ENSG00000196374	Chromatin interaction
ENSG00000196747	Chromatin interaction

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

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

rs_ID	r²[population]
rs10484400	0.86[EUR][1000 genomes]
rs10946943	0.89[EUR][1000 genomes]
rs1157432	0.84[EUR][1000 genomes]
rs12055685	0.88[EUR][1000 genomes]
rs12173985	0.89[EUR][1000 genomes]
rs12174087	0.88[EUR][1000 genomes]
rs12663707	0.86[EUR][1000 genomes]
rs12664599	0.86[EUR][1000 genomes]
rs1555021	0.89[EUR][1000 genomes]
rs16867886	0.89[EUR][1000 genomes]
rs16867916	0.86[EUR][1000 genomes]
rs16867921	0.88[EUR][1000 genomes]
rs16867976	0.81[EUR][1000 genomes]
rs16867983	0.81[EUR][1000 genomes]
rs1973889	0.89[EUR][1000 genomes]
rs2143082	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4713114	0.93[ASN][1000 genomes]
rs56408767	0.89[EUR][1000 genomes]
rs59893892	0.84[EUR][1000 genomes]
rs6903016	0.99[ASN][1000 genomes]
rs6906653	0.89[EUR][1000 genomes]
rs6917366	0.99[ASN][1000 genomes]
rs6920044	0.89[EUR][1000 genomes]
rs6936999	0.93[ASN][1000 genomes]
rs73385147	0.89[EUR][1000 genomes]
rs73385152	0.89[EUR][1000 genomes]
rs73385154	0.89[EUR][1000 genomes]
rs7753236	0.84[EUR][1000 genomes]
rs878241	0.89[EUR][1000 genomes]
rs9348771	0.89[EUR][1000 genomes]
rs9348777	0.81[EUR][1000 genomes]
rs9357043	0.89[EUR][1000 genomes]
rs9357044	0.89[EUR][1000 genomes]
rs9357048	0.81[EUR][1000 genomes]
rs9366694	0.98[ASN][1000 genomes]
rs9366698	0.93[ASN][1000 genomes]
rs9368517	0.88[EUR][1000 genomes]
rs9368521	0.89[EUR][1000 genomes]
rs9368524	0.89[EUR][1000 genomes]
rs9368525	0.86[EUR][1000 genomes]
rs9368526	0.86[EUR][1000 genomes]
rs9380000	0.88[EUR][1000 genomes]
rs9380001	0.89[EUR][1000 genomes]
rs9380002	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9380003	0.99[ASN][1000 genomes]
rs9380005	0.86[EUR][1000 genomes]
rs9380006	0.98[ASN][1000 genomes]
rs9393842	0.89[EUR][1000 genomes]
rs9393849	0.81[EUR][1000 genomes]
rs9393852	0.84[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27634600-27638400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
2	chr6:27634600-27640800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:27634800-27637600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr6:27634800-27638400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr6:27634800-27638400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:27634800-27638800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:27634800-27639400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:27634800-27640000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr6:27634800-27641400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr6:27635000-27636800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:27635000-27637400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr6:27635200-27636400	Bivalent Enhancer	Fetal Stomach	stomach
13	chr6:27635200-27637200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:27635200-27637600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
15	chr6:27635200-27639200	Active TSS	A549	lung
16	chr6:27635200-27641200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr6:27635400-27636400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
18	chr6:27635400-27636600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
19	chr6:27635400-27636800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:27635400-27636800	Active TSS	NH-A	brain
21	chr6:27635400-27637200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:27635400-27637600	Bivalent/Poised TSS	HepG2	liver
23	chr6:27635400-27637800	Active TSS	NHLF	lung
24	chr6:27635400-27638000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:27635400-27638000	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr6:27635400-27639200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr6:27635400-27639400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr6:27635600-27636400	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:27635600-27636400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr6:27635600-27636400	Active TSS	HSMMtube	muscle
31	chr6:27635600-27636600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr6:27635600-27636600	Bivalent Enhancer	Fetal Intestine Small	intestine
33	chr6:27635600-27636800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr6:27635600-27637000	Active TSS	Hela-S3	cervix
35	chr6:27635600-27637200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr6:27635600-27637200	Active TSS	K562	blood
37	chr6:27635800-27636400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
38	chr6:27635800-27636400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr6:27635800-27636600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:27635800-27636800	Active TSS	GM12878-XiMat	blood
41	chr6:27635800-27637000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr6:27635800-27637000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
43	chr6:27635800-27637000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
44	chr6:27635800-27637200	Active TSS	HMEC	breast
45	chr6:27635800-27637600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:27635800-27637600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr6:27635800-27637800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr6:27635800-27638000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
49	chr6:27636000-27636400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:27636000-27636400	Bivalent Enhancer	Fetal Intestine Large	intestine

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