Variant report

Variant	rs1197691
Chromosome Location	chr15:42175104-42175105
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1048166	0.85[CHB][hapmap]
rs1048175	0.85[CHB][hapmap]
rs10518741	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1209334	1.00[CHB][hapmap]
rs13329244	0.82[CHB][hapmap]
rs1618332	0.81[CEU][hapmap]
rs1672461	1.00[CHB][hapmap]
rs1704388	0.85[CHB][hapmap]
rs1704391	0.85[CHB][hapmap]
rs1704396	0.85[CHB][hapmap]
rs17686769	0.82[CHB][hapmap]
rs2271283	0.82[CHB][hapmap]
rs7183264	0.82[CHB][hapmap]
rs8041458	1.00[CHB][hapmap]
rs890502	0.85[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
5	esv1827003	chr15:42087505-42199076	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS 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
6	nsv1041645	chr15:42095168-42186482	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
7	nsv1051200	chr15:42095168-42188035	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
8	nsv517631	chr15:42096926-42187492	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
9	nsv1051733	chr15:42098896-42186482	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1036153	chr15:42098896-42188035	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
11	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
12	nsv1048606	chr15:42101694-42192760	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
13	nsv904117	chr15:42103822-42184794	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS 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 miRNA	20 gene(s)	inside rSNPs	diseases
14	nsv904118	chr15:42103822-42207905	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer 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	20 gene(s)	inside rSNPs	diseases
15	nsv904124	chr15:42109975-42207905	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
16	nsv9244	chr15:42110712-42208805	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
17	nsv904125	chr15:42119900-42210393	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers 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	19 gene(s)	inside rSNPs	diseases
18	nsv1050892	chr15:42128855-42186482	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
19	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
20	nsv904127	chr15:42142912-42207905	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
21	nsv904128	chr15:42147639-42207905	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
22	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
23	nsv904129	chr15:42162957-42207905	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	esv3325887	chr15:42173185-42176033	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv3389238	chr15:42173510-42175708	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1197691	EHD4	Cis_1M	lymphoblastoid	RTeQTL
rs1197691	SPTBN5	cis	Adipose Subcutaneous	GTEx
rs1197691	SPTBN5	cis	lung	GTEx
rs1197691	SPTBN5	cis	Artery Tibial	GTEx
rs1197691	SPTBN5	cis	Esophagus Muscularis	GTEx
rs1197691	SPTBN5	cis	Muscle Skeletal	GTEx

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42141200-42191200	Weak transcription	Aorta	Aorta
2	chr15:42157400-42179200	Weak transcription	HSMMtube	muscle
3	chr15:42165400-42184800	Weak transcription	HMEC	breast
4	chr15:42172000-42178400	Enhancers	Liver	Liver
5	chr15:42172600-42175800	Strong transcription	HUVEC	blood vessel
6	chr15:42173600-42175800	Enhancers	Fetal Heart	heart
7	chr15:42173600-42175800	Enhancers	Spleen	Spleen
8	chr15:42173800-42175200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr15:42173800-42175200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
10	chr15:42173800-42175200	Bivalent Enhancer	Stomach Mucosa	stomach
11	chr15:42173800-42175400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr15:42173800-42175800	Enhancers	Left Ventricle	heart
13	chr15:42173800-42176000	Enhancers	Primary B cells from peripheral blood	blood
14	chr15:42173800-42176000	Enhancers	Primary hematopoietic stem cells	blood
15	chr15:42174000-42175200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
16	chr15:42174000-42175200	Bivalent Enhancer	Fetal Brain Male	brain
17	chr15:42174000-42175800	Enhancers	Placenta Amnion	Placenta Amnion
18	chr15:42174000-42176000	Enhancers	Primary B cells from cord blood	blood
19	chr15:42174000-42180400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr15:42174000-42186000	Weak transcription	HSMM	muscle
21	chr15:42174200-42175200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr15:42174200-42175400	Enhancers	Fetal Lung	lung
23	chr15:42174200-42175600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr15:42174200-42175800	Enhancers	Brain Cingulate Gyrus	brain
25	chr15:42174200-42176000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr15:42174200-42176000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:42174200-42186600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr15:42174400-42175200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:42174400-42175600	Bivalent Enhancer	Fetal Thymus	thymus
30	chr15:42174400-42179400	Weak transcription	Lung	lung
31	chr15:42174600-42175400	Bivalent Enhancer	Thymus	Thymus
32	chr15:42174800-42175200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr15:42174800-42175200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
34	chr15:42174800-42175200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
35	chr15:42174800-42175200	Enhancers	NHEK	skin
36	chr15:42174800-42175400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr15:42174800-42175400	Enhancers	Brain Hippocampus Middle	brain
38	chr15:42174800-42175400	Bivalent Enhancer	Colonic Mucosa	Colon
39	chr15:42174800-42175400	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr15:42174800-42175400	Bivalent Enhancer	Fetal Stomach	stomach
41	chr15:42174800-42175600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:42174800-42175600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr15:42174800-42175600	Enhancers	Gastric	stomach
44	chr15:42174800-42175800	Enhancers	Primary T cells from cord blood	blood
45	chr15:42174800-42176000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr15:42174800-42177000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr15:42174800-42180200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:42175000-42175200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
49	chr15:42175000-42175200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
50	chr15:42175000-42175200	Enhancers	Colon Smooth Muscle	Colon

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