Variant report

Variant	rs36087337
Chromosome Location	chr19:35665921-35665922
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35660384..35663163-chr19:35664605..35666174,2	MCF-7	breast:
2	chr19:35665363..35668225-chr19:35738724..35741368,2	K562	blood:
3	chr19:35659935..35661487-chr19:35664872..35667024,2	K562	blood:
4	chr19:35659935..35661802-chr19:35663380..35667024,3	K562	blood:

Variant related genes	Relation type
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12459611	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12978479	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12984052	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2106447	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2901967	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34197953	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34571941	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3458	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35436785	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35575880	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71352910	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911616	chr19:35577870-35669071	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	esv2757694	chr19:35653642-35673333	ZNF genes & repeats Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2758757	chr19:35653642-35673333	Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv2470	chr19:35655281-35702565	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
7	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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 miRNA target site	107 gene(s)	inside rSNPs	diseases
8	esv3503601	chr19:35659912-35666960	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv3503603	chr19:35660362-35666860	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv516540	chr19:35660450-35685536	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv3503604	chr19:35660647-35665984	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv9709	chr19:35660761-35667329	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv828533	chr19:35660979-35667253	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	esv13653	chr19:35661185-35666238	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv819243	chr19:35661284-35666027	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	esv3318760	chr19:35661512-35667610	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	esv3318761	chr19:35661512-35667610	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv579367	chr19:35661787-35665930	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv817831	chr19:35661787-35673243	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	nsv579368	chr19:35661787-35680002	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv579375	chr19:35662228-35665930	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	nsv579377	chr19:35662257-35673243	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
23	nsv579381	chr19:35662766-35665930	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs36087337	FXYD5	cis	Skin Sun Exposed Lower leg	GTEx
rs36087337	FXYD5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35653600-35667400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:35655200-35667600	Weak transcription	Colonic Mucosa	Colon
3	chr19:35657600-35666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:35657800-35666800	Weak transcription	Right Ventricle	heart
5	chr19:35658000-35667000	Weak transcription	HSMM	muscle
6	chr19:35658200-35666800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr19:35658200-35666800	Weak transcription	Osteobl	bone
8	chr19:35658800-35667200	Weak transcription	NH-A	brain
9	chr19:35659600-35666800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr19:35659600-35667000	Weak transcription	GM12878-XiMat	blood
11	chr19:35659800-35666400	Weak transcription	Esophagus	oesophagus
12	chr19:35660800-35673400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:35661000-35666800	Weak transcription	Lung	lung
14	chr19:35661200-35666000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr19:35661400-35667000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr19:35661600-35666600	Weak transcription	NHEK	skin
17	chr19:35661800-35666000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:35661800-35666200	Weak transcription	Placenta	Placenta
19	chr19:35661800-35666800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr19:35661800-35666800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr19:35661800-35666800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:35661800-35666800	Weak transcription	NHLF	lung
23	chr19:35661800-35668600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr19:35661800-35670000	Weak transcription	Thymus	Thymus
25	chr19:35661800-35673400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:35662000-35666800	Weak transcription	HMEC	breast
27	chr19:35662800-35666200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr19:35662800-35666600	Weak transcription	NHDF-Ad	bronchial
29	chr19:35663000-35667200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr19:35663200-35666000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr19:35663400-35666000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr19:35663400-35666600	Weak transcription	Spleen	Spleen
33	chr19:35663400-35666800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:35663400-35666800	Weak transcription	Adipose Nuclei	Adipose
35	chr19:35663400-35667200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr19:35663600-35666000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:35663600-35666800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr19:35663800-35666800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:35663800-35667200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr19:35663800-35667200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr19:35664000-35666800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr19:35664000-35666800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:35664000-35666800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:35664000-35667000	Weak transcription	Fetal Intestine Small	intestine
45	chr19:35664000-35668200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr19:35664000-35668200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr19:35664000-35669800	Weak transcription	Primary T cells from cord blood	blood
48	chr19:35664000-35669800	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr19:35664000-35670000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:35664200-35666800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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