Variant report

Variant	rs1986719
Chromosome Location	chr17:45959996-45959997
allele	C/T
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	chr17:45959459-45960017	U87	brain:	n/a	n/a
2	IRF1	chr17:45959551-45960011	K562	blood:	n/a	chr17:45959828-45959838 chr17:45959827-45959840 chr17:45959824-45959838 chr17:45959826-45959846 chr17:45959822-45959839 chr17:45959833-45959845 chr17:45959827-45959841 chr17:45959827-45959839 chr17:45959826-45959837 chr17:45959827-45959840 chr17:45959825-45959839 chr17:45959827-45959840 chr17:45959820-45959840 chr17:45959826-45959840 chr17:45959827-45959839 chr17:45959827-45959838 chr17:45959828-45959842

No.	Distal block	Cell Line	Cell type
1	chr17:45928046..45933138-chr17:45958246..45966286,8	K562	blood:
2	chr17:45959646..45962824-chr17:45972724..45975938,3	K562	blood:
3	chr17:45920242..45924382-chr17:45959879..45966158,9	MCF-7	breast:
4	chr17:45959646..45961170-chr17:45972984..45974723,2	K562	blood:
5	chr17:45950457..45952482-chr17:45959947..45962257,2	K562	blood:
6	chr17:45959973..45962881-chr17:45970750..45975397,6	MCF-7	breast:
7	chr17:45914114..45922201-chr17:45959661..45964608,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266821	TF binding region
ENSG00000167182	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000141295	Chromatin interaction
ENSG00000189120	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10853092	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11650044	1.00[ASN][1000 genomes]
rs2229368	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2325715	1.00[ASN][1000 genomes]
rs2428607	1.00[ASN][1000 genomes]
rs2525108	1.00[ASN][1000 genomes]
rs2525111	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2597170	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4413003	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7405753	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8078698	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv518892	chr17:45887951-46029432	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45954600-45964400	Enhancers	Fetal Intestine Large	intestine
2	chr17:45956400-45961600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:45956400-45961800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr17:45956400-45962400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:45956600-45961200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:45956600-45961800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr17:45956600-45961800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:45956600-45962000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr17:45956800-45960400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:45956800-45961800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr17:45957600-45964200	Enhancers	Fetal Intestine Small	intestine
12	chr17:45958000-45962200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr17:45958200-45964400	Enhancers	Placenta	Placenta
14	chr17:45958400-45963000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr17:45958600-45961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:45959000-45961400	Enhancers	Lung	lung
17	chr17:45959000-45963600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr17:45959200-45960000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr17:45959200-45960000	Enhancers	HUVEC	blood vessel
20	chr17:45959200-45960200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr17:45959200-45960400	Flanking Active TSS	Duodenum Mucosa	Duodenum
22	chr17:45959200-45961000	Enhancers	Right Ventricle	heart
23	chr17:45959200-45961200	Enhancers	Spleen	Spleen
24	chr17:45959200-45963800	Enhancers	Fetal Thymus	thymus
25	chr17:45959400-45960000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr17:45959400-45960000	Active TSS	Rectal Smooth Muscle	rectum
27	chr17:45959400-45960200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:45959400-45960200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr17:45959400-45960200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr17:45959400-45960200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
31	chr17:45959400-45960200	Flanking Active TSS	NHDF-Ad	bronchial
32	chr17:45959400-45960200	Flanking Active TSS	Osteobl	bone
33	chr17:45959400-45962200	Enhancers	Fetal Kidney	kidney
34	chr17:45959400-45963400	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr17:45959600-45960000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:45959600-45960000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr17:45959600-45960000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
38	chr17:45959600-45960000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr17:45959600-45960000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr17:45959600-45960000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
41	chr17:45959600-45960000	Active TSS	Brain Hippocampus Middle	brain
42	chr17:45959600-45960000	Flanking Active TSS	Colon Smooth Muscle	Colon
43	chr17:45959600-45960000	Flanking Active TSS	Stomach Mucosa	stomach
44	chr17:45959600-45960000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
45	chr17:45959600-45960000	Enhancers	GM12878-XiMat	blood
46	chr17:45959600-45960000	Enhancers	HSMMtube	muscle
47	chr17:45959600-45960000	Flanking Active TSS	NHEK	skin
48	chr17:45959600-45960200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:45959600-45960200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:45959600-45960200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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