Variant report

Variant	rs60948814
Chromosome Location	chr6:131752076-131752077
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs4053138	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73627633	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73627644	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73627646	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73627658	1.00[EUR][1000 genomes]
rs73627667	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv886664	chr6:131443843-131754930	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv515476	chr6:131615425-132228577	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv1839224	chr6:131703293-131834119	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2829868	chr6:131729859-131898208	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131741600-131772600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:131743000-131762800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:131748800-131755600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr6:131748800-131761400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr6:131749000-131754800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr6:131749000-131755000	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr6:131749000-131759800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr6:131749000-131762600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:131749000-131762600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr6:131749200-131758800	Weak transcription	Primary T cells from cord blood	blood
11	chr6:131749600-131752600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:131751400-131752200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr6:131751600-131752200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:131751600-131752200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:131751800-131752200	Enhancers	H9 Cell Line	embryonic stem cell
16	chr6:131751800-131752200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:131751800-131753000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr6:131751800-131753800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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