Variant report

Variant	rs1648811
Chromosome Location	chr15:42222390-42222391
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42219188..42222413-chr15:42224091..42227939,3	MCF-7	breast:
2	chr15:42215835..42217701-chr15:42219642..42223208,3	K562	blood:
3	chr15:42215883..42217701-chr15:42220776..42223208,2	K562	blood:
4	chr15:42217369..42219216-chr15:42220643..42223205,3	MCF-7	breast:
5	chr15:42208548..42210300-chr15:42220851..42222621,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1048166	0.84[YRI][hapmap]
rs1048175	0.86[YRI][hapmap]
rs1704388	0.89[YRI][hapmap]
rs7183264	0.87[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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 miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS 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 miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv904116	chr15:42076387-42229852	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
4	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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 miRNA	38 gene(s)	inside rSNPs	diseases
5	nsv1038933	chr15:42138456-42309087	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS 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 miRNA	30 gene(s)	inside rSNPs	diseases
6	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
7	nsv1054728	chr15:42177772-42310009	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1648811	SPTBN5	cis	lung	GTEx
rs1648811	EHD4	cis	multi-tissue	Pritchard
rs1648811	SPTBN5	cis	Artery Tibial	GTEx
rs1648811	SPTBN5	cis	multi-tissue	Pritchard

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42201200-42225400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:42202200-42225200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr15:42210600-42225400	Weak transcription	K562	blood
4	chr15:42210800-42230400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr15:42211600-42226200	Weak transcription	Thymus	Thymus
6	chr15:42212000-42224200	Weak transcription	Esophagus	oesophagus
7	chr15:42212000-42224400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:42212000-42225400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr15:42215000-42223800	Enhancers	Primary B cells from peripheral blood	blood
10	chr15:42217400-42223200	Enhancers	Stomach Mucosa	stomach
11	chr15:42217400-42223800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:42217600-42224000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr15:42217800-42225400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:42217800-42225400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr15:42218200-42223600	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr15:42218400-42223000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:42218400-42223600	Enhancers	Liver	Liver
18	chr15:42218400-42223800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr15:42218400-42223800	Enhancers	Duodenum Mucosa	Duodenum
20	chr15:42218600-42223400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr15:42218800-42223200	Enhancers	Colonic Mucosa	Colon
22	chr15:42219000-42223200	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr15:42219000-42225200	Weak transcription	Fetal Thymus	thymus
24	chr15:42219400-42223800	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr15:42219400-42225600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr15:42219400-42226000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr15:42219400-42226600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr15:42219600-42223600	Enhancers	Right Ventricle	heart
29	chr15:42219800-42223800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:42219800-42224200	Enhancers	NHLF	lung
31	chr15:42219800-42225200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr15:42219800-42225400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr15:42219800-42225600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr15:42220000-42222400	Strong transcription	NHEK	skin
35	chr15:42220000-42223000	Enhancers	Colon Smooth Muscle	Colon
36	chr15:42220000-42226600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr15:42220200-42222400	Enhancers	Stomach Smooth Muscle	stomach
38	chr15:42220200-42222600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr15:42220200-42223200	Flanking Active TSS	Hela-S3	cervix
40	chr15:42220200-42223400	Enhancers	Rectal Smooth Muscle	rectum
41	chr15:42220200-42223600	Enhancers	Fetal Stomach	stomach
42	chr15:42220200-42224000	Enhancers	Osteobl	bone
43	chr15:42220400-42223000	Enhancers	Small Intestine	intestine
44	chr15:42220400-42223800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:42220400-42224800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:42220600-42223600	Enhancers	Left Ventricle	heart
47	chr15:42220600-42224200	Enhancers	Fetal Muscle Leg	muscle
48	chr15:42220600-42224200	Enhancers	HSMMtube	muscle
49	chr15:42220600-42225400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr15:42220800-42222400	Enhancers	NHDF-Ad	bronchial

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