Variant report

Variant	rs16968627
Chromosome Location	chr15:77312826-77312827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77311951..77316312-chr15:77325010..77329080,4	K562	blood:

Variant related genes	Relation type
ENSG00000140368	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10519151	1.00[CHB][hapmap]
rs12438566	1.00[MKK][hapmap]
rs16968536	1.00[CHB][hapmap]
rs17465510	1.00[AFR][1000 genomes]
rs2137309	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs62007173	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62007205	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62007206	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62007207	0.89[EUR][1000 genomes]
rs62027296	1.00[AFR][1000 genomes]
rs7164654	1.00[CHB][hapmap];0.82[MEX][hapmap]
rs7179043	1.00[CHB][hapmap];0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3440794	chr15:76764595-77571114	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3367577	chr15:77015618-77442634	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	esv2758388	chr15:77170550-77373448	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv2760041	chr15:77170550-77373448	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833058	chr15:77235895-77393640	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv517068	chr15:77254544-77381222	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	esv1808532	chr15:77257714-77332539	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1035874	chr15:77266776-77328742	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1822592	chr15:77283956-77332539	Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	nsv570111	chr15:77286693-77332606	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv1048833	chr15:77294593-77339260	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	esv1848501	chr15:77301357-77327571	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1804890	chr15:77302969-77332482	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv1836749	chr15:77302969-77332606	Genic enhancers Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv904414	chr15:77304310-77400388	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv1842687	chr15:77307260-77332606	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs16968627	TSPAN3	cis	lymphoblastoid	seeQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77303000-77319600	Weak transcription	Pancreas	Pancrea
2	chr15:77306600-77314000	Weak transcription	NHEK	skin
3	chr15:77306600-77316800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr15:77307400-77322400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:77307800-77320800	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr15:77308400-77313200	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr15:77308600-77314200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr15:77308600-77317400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:77308800-77314200	Weak transcription	Right Atrium	heart
10	chr15:77308800-77327600	Weak transcription	Esophagus	oesophagus
11	chr15:77309000-77313400	Genic enhancers	Primary monocytes fromperipheralblood	blood
12	chr15:77309200-77313000	Genic enhancers	Monocytes-CD14+_RO01746	blood
13	chr15:77309200-77315400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr15:77309400-77313000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr15:77309400-77316000	Genic enhancers	Spleen	Spleen
16	chr15:77309400-77320000	Genic enhancers	Primary T cells fromperipheralblood	blood
17	chr15:77309600-77313200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
18	chr15:77309800-77319600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:77310000-77314200	Weak transcription	HSMMtube	muscle
20	chr15:77310200-77314200	Weak transcription	Colonic Mucosa	Colon
21	chr15:77310400-77313400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr15:77310600-77313200	Genic enhancers	Primary B cells from cord blood	blood
23	chr15:77311000-77313400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr15:77311200-77313200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr15:77311400-77313000	Genic enhancers	Primary T cells from cord blood	blood
26	chr15:77311400-77315600	Enhancers	GM12878-XiMat	blood
27	chr15:77311400-77316800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr15:77311600-77316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr15:77311800-77313600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:77311800-77316800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr15:77312000-77313200	Weak transcription	Thymus	Thymus
32	chr15:77312000-77315000	Enhancers	Primary hematopoietic stem cells	blood
33	chr15:77312200-77313000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:77312200-77314800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr15:77312200-77328400	Weak transcription	Aorta	Aorta
36	chr15:77312400-77313000	Enhancers	Primary neutrophils fromperipheralblood	blood
37	chr15:77312400-77313200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr15:77312400-77313200	Weak transcription	Placenta	Placenta
39	chr15:77312400-77313400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr15:77312400-77313600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr15:77312400-77314000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr15:77312400-77314000	Weak transcription	Fetal Muscle Leg	muscle
43	chr15:77312400-77314200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:77312400-77314800	Enhancers	Primary B cells from peripheral blood	blood
45	chr15:77312600-77313000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr15:77312600-77313400	Enhancers	Right Ventricle	heart
47	chr15:77312600-77313600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr15:77312600-77314600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr15:77312800-77313200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:77312800-77313200	Enhancers	Fetal Thymus	thymus

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