Variant report

Variant	rs1633915
Chromosome Location	chr19:35649324-35649325
allele	C/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:5)
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	chr19:35648331-35649429	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:35647854..35649713-chr19:35732225..35733958,2	K562	blood:
2	chr19:35556197..35559042-chr19:35647885..35650087,2	K562	blood:
3	chr19:35644753..35650464-chr19:35737058..35742117,12	K562	blood:
4	chr19:35647531..35650498-chr19:35693882..35696047,2	K562	blood:
5	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: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12110	0.85[EUR][1000 genomes]
rs1617607	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1623779	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1672994	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1688007	0.84[EUR][1000 genomes]
rs1688008	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1688045	0.86[EUR][1000 genomes]
rs2451993	0.81[AFR][1000 genomes]
rs8106303	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1633915	FXYD5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35646400-35655000	Weak transcription	Brain Angular Gyrus	brain
2	chr19:35646600-35650800	Weak transcription	Small Intestine	intestine
3	chr19:35646600-35652200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr19:35646600-35653600	Weak transcription	HSMMtube	muscle
5	chr19:35646600-35656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:35646800-35650200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:35646800-35650200	Weak transcription	Gastric	stomach
8	chr19:35646800-35650200	Weak transcription	HSMM	muscle
9	chr19:35646800-35651600	Weak transcription	Brain Hippocampus Middle	brain
10	chr19:35646800-35655000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:35647000-35652400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr19:35647000-35652400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr19:35647000-35653000	Weak transcription	Stomach Mucosa	stomach
14	chr19:35647000-35653400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr19:35647000-35653600	Weak transcription	Colonic Mucosa	Colon
16	chr19:35647000-35654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr19:35647000-35654800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr19:35647400-35650800	Strong transcription	Hela-S3	cervix
19	chr19:35647600-35649400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr19:35647600-35650200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr19:35647600-35650800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr19:35647600-35651000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
23	chr19:35647600-35652000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:35647600-35652200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:35647600-35652200	Weak transcription	Colon Smooth Muscle	Colon
26	chr19:35647600-35652400	Strong transcription	Primary B cells from cord blood	blood
27	chr19:35647600-35652400	Weak transcription	Right Ventricle	heart
28	chr19:35647600-35653400	Strong transcription	Fetal Intestine Small	intestine
29	chr19:35647600-35653800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr19:35647600-35654200	Strong transcription	NHLF	lung
31	chr19:35647600-35655200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr19:35647800-35649400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr19:35647800-35649400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr19:35647800-35650000	Genic enhancers	Primary T cells fromperipheralblood	blood
35	chr19:35647800-35650200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:35647800-35650600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
37	chr19:35647800-35652200	Weak transcription	Esophagus	oesophagus
38	chr19:35647800-35652200	Strong transcription	Thymus	Thymus
39	chr19:35647800-35652200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr19:35647800-35652400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr19:35647800-35652400	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr19:35647800-35652400	Strong transcription	Primary B cells from peripheral blood	blood
43	chr19:35647800-35652400	Strong transcription	Lung	lung
44	chr19:35647800-35652400	Strong transcription	NHEK	skin
45	chr19:35647800-35653200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:35647800-35653400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr19:35647800-35657000	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr19:35648000-35649600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr19:35648000-35650800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr19:35648000-35652000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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