Variant report

Variant	rs1197705
Chromosome Location	chr15:42083843-42083844
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:42067373..42071061-chr15:42083349..42086299,3	K562	blood:
2	chr15:42049130..42051110-chr15:42082054..42084370,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137802	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1122884	0.96[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11630972	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs11631051	0.91[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11632519	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11633160	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11634083	0.95[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11634582	1.00[JPT][hapmap]
rs11634804	0.96[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636523	0.86[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1197660	0.83[CEU][hapmap]
rs1197667	0.89[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1197669	0.96[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1197671	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1197672	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1197702	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1197703	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs1197706	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906666	0.96[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917387	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs17677098	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs17677757	0.91[CEU][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17678310	0.87[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178003	0.96[CEU][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2925339	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34621600	1.00[ASN][1000 genomes]
rs35476790	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7167078	0.96[CEU][hapmap];1.00[JPT][hapmap]
rs8042809	0.88[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9646193	0.96[CEU][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv1036086	chr15:42004962-42091451	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1054671	chr15:42016097-42098896	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv2757597	chr15:42047173-42122617	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv2760027	chr15:42047173-42122617	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv904113	chr15:42050390-42118971	Genic enhancers Strong transcription Enhancers Flanking Active TSS Weak transcription 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 target site	19 gene(s)	inside rSNPs	diseases
7	nsv904114	chr15:42050390-42119900	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	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
9	nsv904115	chr15:42076387-42171483	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
10	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
11	nsv1038393	chr15:42083574-42188035	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1197705	SPTBN5	cis	Artery Tibial	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42070200-42109800	Weak transcription	Fetal Brain Male	brain
2	chr15:42071000-42092800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:42071200-42092000	Weak transcription	Brain Germinal Matrix	brain
4	chr15:42079000-42085200	Enhancers	Fetal Intestine Large	intestine
5	chr15:42079200-42084000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr15:42079200-42090000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr15:42079800-42084000	Enhancers	Primary B cells from peripheral blood	blood
8	chr15:42079800-42089000	Enhancers	HMEC	breast
9	chr15:42080400-42084400	Enhancers	Primary hematopoietic stem cells	blood
10	chr15:42080600-42084000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr15:42080600-42084000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr15:42080600-42084000	Enhancers	Primary T cells from cord blood	blood
13	chr15:42080600-42084000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr15:42080600-42084000	Enhancers	Brain Cingulate Gyrus	brain
15	chr15:42080600-42084000	Enhancers	Brain Hippocampus Middle	brain
16	chr15:42080600-42084000	Enhancers	Gastric	stomach
17	chr15:42080600-42084000	Enhancers	Stomach Mucosa	stomach
18	chr15:42080600-42084200	Enhancers	Brain Anterior Caudate	brain
19	chr15:42080600-42084200	Enhancers	Brain Substantia Nigra	brain
20	chr15:42080600-42084600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr15:42080600-42085000	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr15:42080600-42085000	Enhancers	Right Ventricle	heart
23	chr15:42080600-42085200	Enhancers	Left Ventricle	heart
24	chr15:42080600-42086600	Enhancers	Ovary	ovary
25	chr15:42080600-42086800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:42080600-42088200	Enhancers	NHDF-Ad	bronchial
27	chr15:42080800-42084000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr15:42080800-42084000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr15:42080800-42084000	Enhancers	Colon Smooth Muscle	Colon
30	chr15:42081000-42084000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:42081000-42084000	Enhancers	Thymus	Thymus
32	chr15:42081000-42084600	Enhancers	Adipose Nuclei	Adipose
33	chr15:42081000-42085000	Enhancers	Fetal Thymus	thymus
34	chr15:42081000-42091800	Enhancers	Placenta	Placenta
35	chr15:42081200-42084000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr15:42081200-42084000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr15:42081200-42084000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:42081200-42084000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr15:42081200-42084000	Enhancers	Dnd41	blood
40	chr15:42081200-42084200	Enhancers	HSMMtube	muscle
41	chr15:42081200-42085200	Enhancers	Psoas Muscle	Psoas
42	chr15:42081400-42084000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr15:42081400-42084000	Enhancers	Fetal Lung	lung
44	chr15:42081600-42084000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:42081600-42084000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr15:42081600-42084000	Enhancers	HepG2	liver
47	chr15:42081600-42084000	Enhancers	NHLF	lung
48	chr15:42081600-42085000	Enhancers	Lung	lung
49	chr15:42081600-42085000	Enhancers	Right Atrium	heart
50	chr15:42081600-42085000	Enhancers	Spleen	Spleen

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