Variant report

Variant	rs12980648
Chromosome Location	chr19:35648264-35648265
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:35648187-35648266	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35647854..35649713-chr19:35732225..35733958,2	K562	blood:
2	chr19:35639021..35648956-chr19:35737438..35742195,14	K562	blood:
3	chr19:35556197..35559042-chr19:35647885..35650087,2	K562	blood:
4	chr19:35644753..35650464-chr19:35737058..35742117,12	K562	blood:
5	chr19:35647531..35650498-chr19:35693882..35696047,2	K562	blood:
6	chr19:35638388..35640825-chr19:35646753..35649565,2	MCF-7	breast:

No data

Variant related genes	Relation type
FXYD5	TF binding region
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4806093	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv911614	chr19:35570307-35648365	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases
3	nsv911615	chr19:35577870-35648365	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription 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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12980648	FXYD5	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35645400-35649000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
2	chr19:35646000-35648400	Weak transcription	Aorta	Aorta
3	chr19:35646400-35655000	Weak transcription	Brain Angular Gyrus	brain
4	chr19:35646600-35648400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr19:35646600-35649200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr19:35646600-35650800	Weak transcription	Small Intestine	intestine
7	chr19:35646600-35652200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr19:35646600-35653600	Weak transcription	HSMMtube	muscle
9	chr19:35646600-35656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:35646800-35648400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
11	chr19:35646800-35648400	Weak transcription	A549	lung
12	chr19:35646800-35648600	Weak transcription	Left Ventricle	heart
13	chr19:35646800-35650200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:35646800-35650200	Weak transcription	Gastric	stomach
15	chr19:35646800-35650200	Weak transcription	HSMM	muscle
16	chr19:35646800-35651600	Weak transcription	Brain Hippocampus Middle	brain
17	chr19:35646800-35655000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr19:35647000-35648600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr19:35647000-35648600	Weak transcription	Fetal Intestine Large	intestine
20	chr19:35647000-35648600	Weak transcription	NH-A	brain
21	chr19:35647000-35652400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr19:35647000-35652400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr19:35647000-35653000	Weak transcription	Stomach Mucosa	stomach
24	chr19:35647000-35653400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr19:35647000-35653600	Weak transcription	Colonic Mucosa	Colon
26	chr19:35647000-35654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:35647000-35654800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr19:35647200-35648400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr19:35647200-35648400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:35647200-35648400	Weak transcription	Osteobl	bone
31	chr19:35647200-35648600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:35647400-35648400	Weak transcription	Adipose Nuclei	Adipose
33	chr19:35647400-35648400	Weak transcription	NHDF-Ad	bronchial
34	chr19:35647400-35648600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr19:35647400-35650800	Strong transcription	Hela-S3	cervix
36	chr19:35647600-35649000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr19:35647600-35649400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr19:35647600-35650200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr19:35647600-35650800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr19:35647600-35651000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
41	chr19:35647600-35652000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr19:35647600-35652200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr19:35647600-35652200	Weak transcription	Colon Smooth Muscle	Colon
44	chr19:35647600-35652400	Strong transcription	Primary B cells from cord blood	blood
45	chr19:35647600-35652400	Weak transcription	Right Ventricle	heart
46	chr19:35647600-35653400	Strong transcription	Fetal Intestine Small	intestine
47	chr19:35647600-35653800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:35647600-35654200	Strong transcription	NHLF	lung
49	chr19:35647600-35655200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr19:35647800-35648800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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