Variant report

Variant	rs2003447
Chromosome Location	chr19:35662603-35662604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35660634..35663962-chr19:35667353..35669168,3	K562	blood:
2	chr19:35660384..35663163-chr19:35664605..35666174,2	MCF-7	breast:
3	chr19:35644439..35646610-chr19:35662548..35664453,2	MCF-7	breast:
4	chr19:35662152..35664028-chr19:35739883..35742034,2	K562	blood:
5	chr19:35662127..35664028-chr19:35738687..35742034,3	K562	blood:
6	chr19:35660696..35663351-chr19:35770755..35773033,2	K562	blood:

Variant related genes	Relation type
ENSG00000105697	Chromatin interaction
ENSG00000089327	Chromatin interaction
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2014850	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7248710	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs739494	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8108355	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

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	esv3395817	chr19:35659112-35663810	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	nsv579358	chr19:35660670-35663733	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv579359	chr19:35660752-35665515	Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv579360	chr19:35660752-35665573	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	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
17	esv9184	chr19:35660864-35665915	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
18	esv3318519	chr19:35660887-35665907	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	esv3318520	chr19:35660942-35665841	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv3318517	chr19:35660977-35665872	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv828532	chr19:35660979-35665004	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	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
23	esv3503602	chr19:35661022-35665848	Weak transcription Strong transcription Enhancers 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
24	esv3503605	chr19:35661022-35665848	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
25	esv3318521	chr19:35661066-35665802	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
26	nsv498898	chr19:35661079-35665800	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	esv3318522	chr19:35661080-35665800	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
28	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
29	nsv828534	chr19:35661262-35665004	Genic enhancers ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	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
31	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
32	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
33	nsv458536	chr19:35661787-35662809	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
34	nsv458537	chr19:35661787-35662809	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
35	nsv458538	chr19:35661787-35662809	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
36	nsv458539	chr19:35661787-35662809	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
37	nsv458541	chr19:35661787-35662809	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
38	nsv458542	chr19:35661787-35662809	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
39	nsv458543	chr19:35661787-35662809	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
40	nsv458544	chr19:35661787-35662809	Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
41	nsv458545	chr19:35661787-35662809	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
42	nsv458546	chr19:35661787-35662809	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
43	nsv458547	chr19:35661787-35662809	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
44	nsv458548	chr19:35661787-35662809	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
45	nsv458549	chr19:35661787-35662809	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
46	nsv458550	chr19:35661787-35662809	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
47	nsv458553	chr19:35661787-35662809	Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
48	nsv458554	chr19:35661787-35662809	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
49	nsv458555	chr19:35661787-35662809	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
50	nsv458556	chr19:35661787-35662809	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2003447	FXYD5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35648200-35662800	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr19:35653400-35663800	Weak transcription	Stomach Mucosa	stomach
3	chr19:35653600-35667400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr19:35655200-35667600	Weak transcription	Colonic Mucosa	Colon
5	chr19:35657400-35663200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr19:35657600-35663000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr19:35657600-35666800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr19:35657800-35662800	Weak transcription	Fetal Intestine Large	intestine
9	chr19:35657800-35663400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr19:35657800-35663600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr19:35657800-35663800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:35657800-35666800	Weak transcription	Right Ventricle	heart
13	chr19:35658000-35663600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr19:35658000-35667000	Weak transcription	HSMM	muscle
15	chr19:35658200-35666800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr19:35658200-35666800	Weak transcription	Osteobl	bone
17	chr19:35658400-35663200	Weak transcription	Aorta	Aorta
18	chr19:35658400-35664600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:35658800-35667200	Weak transcription	NH-A	brain
20	chr19:35659400-35663600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr19:35659400-35665600	Weak transcription	A549	lung
22	chr19:35659600-35662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr19:35659600-35663200	Strong transcription	K562	blood
24	chr19:35659600-35666800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:35659600-35667000	Weak transcription	GM12878-XiMat	blood
26	chr19:35659800-35662800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:35659800-35666400	Weak transcription	Esophagus	oesophagus
28	chr19:35660400-35664200	Weak transcription	Hela-S3	cervix
29	chr19:35660800-35663600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:35660800-35663800	Weak transcription	Dnd41	blood
31	chr19:35660800-35673400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:35661000-35663400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:35661000-35666800	Weak transcription	Lung	lung
34	chr19:35661200-35663200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr19:35661200-35666000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr19:35661400-35662800	Strong transcription	NHDF-Ad	bronchial
37	chr19:35661400-35664000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr19:35661400-35667000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr19:35661600-35662800	Weak transcription	Fetal Thymus	thymus
40	chr19:35661600-35663400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr19:35661600-35663400	Weak transcription	Fetal Stomach	stomach
42	chr19:35661600-35663800	Weak transcription	Gastric	stomach
43	chr19:35661600-35666600	Weak transcription	NHEK	skin
44	chr19:35661800-35662800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr19:35661800-35663000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:35661800-35663200	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr19:35661800-35663200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr19:35661800-35663200	Enhancers	Liver	Liver
49	chr19:35661800-35663200	Weak transcription	Fetal Intestine Small	intestine
50	chr19:35661800-35663200	Weak transcription	Spleen	Spleen

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