Variant report

Variant	rs1688006
Chromosome Location	chr19:35649194-35649195
allele	A/C
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: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1633913	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1633914	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1672996	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[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

No data

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	chr19:35646600-35649200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:35646600-35650800	Weak transcription	Small Intestine	intestine
4	chr19:35646600-35652200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr19:35646600-35653600	Weak transcription	HSMMtube	muscle
6	chr19:35646600-35656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:35646800-35650200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:35646800-35650200	Weak transcription	Gastric	stomach
9	chr19:35646800-35650200	Weak transcription	HSMM	muscle
10	chr19:35646800-35651600	Weak transcription	Brain Hippocampus Middle	brain
11	chr19:35646800-35655000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr19:35647000-35652400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr19:35647000-35652400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr19:35647000-35653000	Weak transcription	Stomach Mucosa	stomach
15	chr19:35647000-35653400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr19:35647000-35653600	Weak transcription	Colonic Mucosa	Colon
17	chr19:35647000-35654800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr19:35647000-35654800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr19:35647400-35650800	Strong transcription	Hela-S3	cervix
20	chr19:35647600-35649400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr19:35647600-35650200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr19:35647600-35650800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr19:35647600-35651000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
24	chr19:35647600-35652000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:35647600-35652200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:35647600-35652200	Weak transcription	Colon Smooth Muscle	Colon
27	chr19:35647600-35652400	Strong transcription	Primary B cells from cord blood	blood
28	chr19:35647600-35652400	Weak transcription	Right Ventricle	heart
29	chr19:35647600-35653400	Strong transcription	Fetal Intestine Small	intestine
30	chr19:35647600-35653800	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr19:35647600-35654200	Strong transcription	NHLF	lung
32	chr19:35647600-35655200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr19:35647800-35649200	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr19:35647800-35649400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr19:35647800-35649400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr19:35647800-35650000	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr19:35647800-35650200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:35647800-35650600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
39	chr19:35647800-35652200	Weak transcription	Esophagus	oesophagus
40	chr19:35647800-35652200	Strong transcription	Thymus	Thymus
41	chr19:35647800-35652200	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr19:35647800-35652400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:35647800-35652400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr19:35647800-35652400	Strong transcription	Primary B cells from peripheral blood	blood
45	chr19:35647800-35652400	Strong transcription	Lung	lung
46	chr19:35647800-35652400	Strong transcription	NHEK	skin
47	chr19:35647800-35653200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:35647800-35653400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr19:35647800-35657000	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr19:35648000-35649600	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood

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