Variant report

Variant	rs1617607
Chromosome Location	chr19:35651531-35651532
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:35651456-35651803	K562	blood:	n/a	n/a
2	POLR2A	chr19:35651207-35651848	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:35651223..35652783-chr19:35738946..35741329,2	MCF-7	breast:
2	chr19:35650702..35653470-chr19:35739367..35741084,2	K562	blood:

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

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12110	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1623779	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1624046	0.80[EUR][1000 genomes]
rs1633915	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1672994	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1688007	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1688008	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1688045	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2451993	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8106303	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][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
rs1617607	FXYD5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:106 , 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	chr19:35646600-35652200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:35646600-35653600	Weak transcription	HSMMtube	muscle
4	chr19:35646600-35656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr19:35646800-35651600	Weak transcription	Brain Hippocampus Middle	brain
6	chr19:35646800-35655000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:35647000-35652400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr19:35647000-35652400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr19:35647000-35653000	Weak transcription	Stomach Mucosa	stomach
10	chr19:35647000-35653400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr19:35647000-35653600	Weak transcription	Colonic Mucosa	Colon
12	chr19:35647000-35654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr19:35647000-35654800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr19:35647600-35652000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr19:35647600-35652200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:35647600-35652200	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:35647600-35652400	Strong transcription	Primary B cells from cord blood	blood
18	chr19:35647600-35652400	Weak transcription	Right Ventricle	heart
19	chr19:35647600-35653400	Strong transcription	Fetal Intestine Small	intestine
20	chr19:35647600-35653800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr19:35647600-35654200	Strong transcription	NHLF	lung
22	chr19:35647600-35655200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:35647800-35652200	Weak transcription	Esophagus	oesophagus
24	chr19:35647800-35652200	Strong transcription	Thymus	Thymus
25	chr19:35647800-35652200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr19:35647800-35652400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:35647800-35652400	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr19:35647800-35652400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr19:35647800-35652400	Strong transcription	Lung	lung
30	chr19:35647800-35652400	Strong transcription	NHEK	skin
31	chr19:35647800-35653200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr19:35647800-35653400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr19:35647800-35657000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr19:35648000-35652000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr19:35648000-35652200	Strong transcription	GM12878-XiMat	blood
36	chr19:35648000-35652400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:35648000-35652400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr19:35648000-35652400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr19:35648000-35652400	Strong transcription	Primary T cells from cord blood	blood
40	chr19:35648000-35652400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:35648000-35652400	Strong transcription	Placenta	Placenta
42	chr19:35648000-35652600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:35648000-35653000	Strong transcription	Spleen	Spleen
44	chr19:35648000-35653200	Strong transcription	HMEC	breast
45	chr19:35648000-35653400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr19:35648000-35653600	Strong transcription	HUVEC	blood vessel
47	chr19:35648000-35653800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr19:35648000-35654200	Strong transcription	Primary hematopoietic stem cells	blood
49	chr19:35648000-35654800	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr19:35648000-35655000	Strong transcription	Sigmoid Colon	Sigmoid Colon

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