Variant report

Variant	rs11570587
Chromosome Location	chr17:45195825-45195826
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	chr17:45195326-45195858	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45195494..45197087-chr17:45199093..45201965,2	K562	blood:

Variant related genes	Relation type
ENSG00000221016	TF binding region
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11570460	0.90[YRI][hapmap]
rs11570469	0.82[AFR][1000 genomes]
rs11570554	0.94[AFR][1000 genomes]
rs11570555	0.97[AFR][1000 genomes]
rs11869037	1.00[YRI][hapmap]
rs16941584	0.82[YRI][hapmap]
rs73317687	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833466	chr17:45020360-45204537	Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv833467	chr17:45063935-45252624	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3332795	chr17:45116212-45209297	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv3386521	chr17:45116232-45209267	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1059766	chr17:45130765-45203468	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	esv2760450	chr17:45130777-45225222	Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv521632	chr17:45151549-45196190	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv908563	chr17:45158537-45230311	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv962456	chr17:45163689-45212872	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45183400-45197400	Weak transcription	HSMMtube	muscle
2	chr17:45185600-45206400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:45186800-45197800	Weak transcription	Fetal Brain Female	brain
4	chr17:45188200-45197800	Weak transcription	Hela-S3	cervix
5	chr17:45189000-45196600	Weak transcription	NHDF-Ad	bronchial
6	chr17:45189800-45198000	Weak transcription	Fetal Stomach	stomach
7	chr17:45190000-45203200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr17:45191000-45197200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr17:45191000-45202000	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr17:45191200-45197800	Weak transcription	Small Intestine	intestine
11	chr17:45191200-45202600	Weak transcription	Right Ventricle	heart
12	chr17:45191400-45197200	Weak transcription	Fetal Heart	heart
13	chr17:45191400-45197200	Weak transcription	Fetal Intestine Large	intestine
14	chr17:45191600-45196800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr17:45191600-45197600	Weak transcription	HepG2	liver
16	chr17:45191800-45197600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr17:45191800-45198000	Weak transcription	Thymus	Thymus
18	chr17:45192000-45198200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr17:45192200-45198000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:45192200-45198000	Weak transcription	Left Ventricle	heart
21	chr17:45192400-45196000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr17:45192400-45196000	Weak transcription	K562	blood
23	chr17:45192400-45196600	Weak transcription	Placenta	Placenta
24	chr17:45192400-45197000	Weak transcription	Primary B cells from cord blood	blood
25	chr17:45192400-45197400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr17:45192400-45197600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr17:45192400-45212800	Weak transcription	Gastric	stomach
28	chr17:45192600-45196000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:45192600-45197200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr17:45192600-45197200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr17:45192600-45197400	Weak transcription	Psoas Muscle	Psoas
32	chr17:45192600-45197600	Weak transcription	Fetal Kidney	kidney
33	chr17:45192600-45200200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr17:45192800-45197400	Weak transcription	HMEC	breast
35	chr17:45192800-45197600	Weak transcription	Primary T cells from cord blood	blood
36	chr17:45193000-45196000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr17:45193000-45197200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr17:45193200-45197800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr17:45193200-45212800	Weak transcription	Aorta	Aorta
40	chr17:45193400-45197200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr17:45193400-45197400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:45193400-45197600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr17:45193600-45197400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr17:45193800-45197200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr17:45193800-45197200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr17:45193800-45197400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr17:45194000-45196400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr17:45194000-45196400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr17:45194000-45196800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr17:45194000-45197000	Weak transcription	Fetal Lung	lung

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