Variant report

Variant	rs13191639
Chromosome Location	chr6:76332045-76332046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:76311276..76313926-chr6:76328791..76332406,4	MCF-7	breast:
2	chr6:76327800..76329805-chr6:76331383..76333611,2	K562	blood:
3	chr6:76310252..76312972-chr6:76331195..76334683,3	MCF-7	breast:
4	chr6:76330148..76333811-chr6:76341672..76344273,3	K562	blood:

Variant related genes	Relation type
ENSG00000112701	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1018103	0.82[EUR][1000 genomes]
rs10943273	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10943274	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12199441	0.87[ASN][1000 genomes]
rs12199457	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12213227	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12524436	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12525161	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13214795	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1414597	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2133192	0.81[EUR][1000 genomes]
rs2647399	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2647401	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2647402	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2647403	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2647409	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2647412	0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2647413	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2647415	0.83[EUR][1000 genomes]
rs2647416	0.80[EUR][1000 genomes]
rs2647418	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2647419	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2748953	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2748965	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2756039	0.95[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs2783351	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2784730	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2784732	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2784733	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2842535	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2842539	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2842563	0.84[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2842571	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2842572	0.88[EUR][1000 genomes]
rs34239015	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs478934	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs570939	0.83[EUR][1000 genomes]
rs575720	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6453832	0.83[AMR][1000 genomes]
rs649935	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6907247	0.82[EUR][1000 genomes]
rs7356806	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs775071	0.82[EUR][1000 genomes]
rs9294001	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9350598	0.80[EUR][1000 genomes]
rs9352237	0.82[EUR][1000 genomes]
rs9352238	0.81[EUR][1000 genomes]
rs9359137	0.81[EUR][1000 genomes]
rs9443180	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9447510	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9447513	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9447514	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9447522	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9447523	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9447524	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9885866	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027915	chr6:75893542-76510113	Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh 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 miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv538311	chr6:75893542-76510113	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv1022428	chr6:76023118-76575620	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
4	nsv538312	chr6:76023118-76575620	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
5	nsv1032245	chr6:76045537-76545703	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
6	nsv538313	chr6:76045537-76545703	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
7	nsv1019328	chr6:76154751-76604197	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
8	nsv538314	chr6:76154751-76604197	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv1023331	chr6:76238459-76482117	Strong transcription ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv538315	chr6:76238459-76482117	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1017542	chr6:76238459-76537447	Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv1031745	chr6:76257913-76493355	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv538316	chr6:76257913-76493355	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
14	nsv533100	chr6:76257914-76493354	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
15	nsv1023749	chr6:76287578-76482117	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
16	nsv538317	chr6:76287578-76482117	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
17	nsv1021090	chr6:76306100-76759397	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv538318	chr6:76306100-76759397	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
19	nsv886183	chr6:76320846-76399539	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv886184	chr6:76320846-76462711	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
21	nsv886185	chr6:76320846-76498109	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv886186	chr6:76328955-76469115	Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13191639	SENP6	cis	Whole Blood	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76314000-76343200	Weak transcription	Fetal Kidney	kidney
2	chr6:76314400-76334800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:76314400-76336800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr6:76318200-76334800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:76319800-76333400	Weak transcription	HMEC	breast
6	chr6:76319800-76348400	Weak transcription	NHEK	skin
7	chr6:76320200-76333200	Weak transcription	NH-A	brain
8	chr6:76320200-76351800	Weak transcription	HSMMtube	muscle
9	chr6:76320200-76391600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:76320800-76334400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:76321200-76348400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:76321600-76332800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:76321600-76334000	Weak transcription	HSMM	muscle
14	chr6:76321600-76339400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr6:76321800-76370400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr6:76322000-76341600	Weak transcription	NHLF	lung
17	chr6:76322600-76361000	Weak transcription	Thymus	Thymus
18	chr6:76322800-76333800	Weak transcription	Placenta	Placenta
19	chr6:76323800-76334000	Weak transcription	Hela-S3	cervix
20	chr6:76323800-76334200	Weak transcription	HepG2	liver
21	chr6:76325000-76334800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:76325200-76332200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:76327600-76333800	Enhancers	Liver	Liver
24	chr6:76328000-76334200	Weak transcription	A549	lung
25	chr6:76328400-76334600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:76328400-76334800	Weak transcription	Fetal Intestine Small	intestine
27	chr6:76328600-76334800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr6:76328800-76333200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:76328800-76339400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:76329200-76332200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr6:76329200-76332200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:76329200-76332400	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr6:76329400-76333200	Weak transcription	Fetal Brain Male	brain
34	chr6:76329400-76343400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr6:76329800-76336800	Weak transcription	Lung	lung
36	chr6:76329800-76341600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:76330000-76332600	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr6:76330200-76332800	Weak transcription	HUVEC	blood vessel
39	chr6:76330200-76333600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:76330200-76334000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr6:76330200-76334800	Weak transcription	Fetal Stomach	stomach
42	chr6:76330400-76332200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:76330400-76333200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:76330400-76333400	Weak transcription	GM12878-XiMat	blood
45	chr6:76330400-76334000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr6:76330400-76349600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:76330400-76349800	Weak transcription	Colonic Mucosa	Colon
48	chr6:76330400-76361000	Weak transcription	Esophagus	oesophagus
49	chr6:76330600-76332800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr6:76330600-76333000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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