Variant report

Variant	rs61602553
Chromosome Location	chr6:167324659-167324660
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:167324658-167325218	K562	blood:	n/a	n/a
2	RCOR1	chr6:167324633-167325317	K562	blood:	n/a	n/a
3	FOS	chr6:167324109-167324990	MCF10A-Er-Src	breast:	n/a	chr6:167324857-167324867 chr6:167324857-167324867 chr6:167324273-167324284
4	JUN	chr6:167323716-167325315	K562	blood:	n/a	chr6:167324857-167324867 chr6:167324857-167324867 chr6:167324273-167324284
5	FOS	chr6:167324109-167325001	MCF10A-Er-Src	breast:	n/a	chr6:167324857-167324867 chr6:167324857-167324867 chr6:167324273-167324284
6	MEF2A	chr6:167324601-167325052	K562	blood:	n/a	n/a
7	TEAD4	chr6:167324631-167325345	K562	blood:	n/a	n/a
8	FOS	chr6:167324150-167324659	MCF10A-Er-Src	breast:	n/a	chr6:167324273-167324284
9	JUN	chr6:167324207-167325274	K562	blood:	n/a	chr6:167324857-167324867 chr6:167324857-167324867 chr6:167324273-167324284
10	ATF1	chr6:167324192-167325358	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:167324257..167326145-chr6:167328411..167330868,2	K562	blood:
2	chr6:167324476..167326634-chr6:167338829..167341348,2	K562	blood:

Variant related genes	Relation type
RPS6KA2	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs16899790	1.00[EUR][1000 genomes]
rs16899815	1.00[EUR][1000 genomes]
rs1776	1.00[EUR][1000 genomes]
rs2145959	1.00[EUR][1000 genomes]
rs34544438	1.00[EUR][1000 genomes]
rs35517174	1.00[EUR][1000 genomes]
rs3756831	1.00[EUR][1000 genomes]
rs57450712	1.00[EUR][1000 genomes]
rs59100209	1.00[EUR][1000 genomes]
rs60175539	1.00[EUR][1000 genomes]
rs61387345	1.00[EUR][1000 genomes]
rs61712256	1.00[EUR][1000 genomes]
rs6456135	1.00[EUR][1000 genomes]
rs6456142	1.00[EUR][1000 genomes]
rs6456144	1.00[EUR][1000 genomes]
rs6456147	1.00[EUR][1000 genomes]
rs6899812	1.00[EUR][1000 genomes]
rs6916629	1.00[EUR][1000 genomes]
rs6919742	1.00[EUR][1000 genomes]
rs6920058	1.00[EUR][1000 genomes]
rs6920393	1.00[EUR][1000 genomes]
rs6924611	1.00[EUR][1000 genomes]
rs6933595	1.00[EUR][1000 genomes]
rs6938521	1.00[EUR][1000 genomes]
rs73254674	1.00[EUR][1000 genomes]
rs73788182	1.00[EUR][1000 genomes]
rs73788200	1.00[EUR][1000 genomes]
rs7741161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7753939	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7762305	1.00[EUR][1000 genomes]
rs7775401	1.00[EUR][1000 genomes]
rs7775499	1.00[EUR][1000 genomes]
rs7775521	1.00[EUR][1000 genomes]
rs7776428	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv605260	chr6:166984094-167455139	Enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1019381	chr6:167090236-167558598	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats 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
3	nsv538541	chr6:167090236-167558598	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv1022866	chr6:167108740-167345629	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers 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	10 gene(s)	inside rSNPs	diseases
5	nsv605327	chr6:167185674-167360389	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1027314	chr6:167194653-167355961	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv538542	chr6:167194653-167355961	Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv605332	chr6:167198027-167353701	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv948634	chr6:167200671-167838993	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
10	nsv482507	chr6:167282376-167474915	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv532074	chr6:167320656-167781977	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
12	nsv1031039	chr6:167324021-167741439	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
13	nsv538543	chr6:167324021-167741439	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167315800-167341600	Weak transcription	Pancreas	Pancrea
2	chr6:167318400-167343800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:167318600-167342400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:167318800-167326800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:167319200-167327600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:167320400-167326000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:167320400-167327400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr6:167321200-167326000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:167321200-167327800	Weak transcription	Brain Substantia Nigra	brain
10	chr6:167321200-167340000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:167321400-167326000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:167321600-167331000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:167321600-167340600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr6:167321800-167342200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr6:167322000-167340200	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr6:167322000-167340600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:167322000-167341600	Weak transcription	Gastric	stomach
18	chr6:167322200-167326000	Weak transcription	Brain Germinal Matrix	brain
19	chr6:167322200-167326200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr6:167322200-167330400	Weak transcription	HepG2	liver
21	chr6:167322400-167340000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr6:167322600-167330200	Weak transcription	Primary T cells from cord blood	blood
23	chr6:167322600-167340000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr6:167322800-167326200	Weak transcription	Primary B cells from cord blood	blood
25	chr6:167323000-167326200	Weak transcription	Ovary	ovary
26	chr6:167323000-167332200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:167323400-167339200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr6:167323800-167325200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:167324000-167325400	Enhancers	K562	blood
30	chr6:167324400-167324800	Enhancers	Primary B cells from peripheral blood	blood
31	chr6:167324400-167325000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:167324400-167325200	Enhancers	NH-A	brain
33	chr6:167324400-167325400	Enhancers	GM12878-XiMat	blood
34	chr6:167324600-167324800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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