Variant report

Variant	rs11658872
Chromosome Location	chr17:17425069-17425070
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17417655..17420606-chr17:17424227..17426115,2	K562	blood:
2	chr17:17422447..17424302-chr17:17424957..17427591,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11657678	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11658944	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55964214	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59387776	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs897456	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482648	chr17:17315268-17455442	Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv907729	chr17:17338536-17425279	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv907731	chr17:17358004-17504856	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv907734	chr17:17381764-17425858	Enhancers Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv907735	chr17:17381764-17448589	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	nsv907736	chr17:17381764-17465458	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv907740	chr17:17404586-17425858	Strong transcription Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv907741	chr17:17404586-17429927	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv907742	chr17:17404586-17432744	Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv907743	chr17:17404586-17448589	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
11	nsv907744	chr17:17404586-17504856	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
12	esv1803680	chr17:17408484-17426009	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv907745	chr17:17411211-17429927	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv907746	chr17:17412032-17478917	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv907747	chr17:17412032-17504856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv907748	chr17:17412032-17782404	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
17	nsv523094	chr17:17415217-17430649	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv907749	chr17:17417169-17448589	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
19	nsv524158	chr17:17420199-17430649	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	nsv574526	chr17:17422608-17444369	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	nsv470579	chr17:17424332-17493810	Genic enhancers Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17401000-17425400	Weak transcription	Thymus	Thymus
2	chr17:17407400-17425400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr17:17410200-17426400	Weak transcription	Fetal Intestine Large	intestine
4	chr17:17411000-17428600	Weak transcription	Brain Hippocampus Middle	brain
5	chr17:17411000-17428600	Weak transcription	Right Atrium	heart
6	chr17:17411000-17428800	Weak transcription	Brain Anterior Caudate	brain
7	chr17:17411400-17428600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr17:17411600-17425600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:17413200-17437400	Weak transcription	Aorta	Aorta
10	chr17:17415000-17425800	Weak transcription	Dnd41	blood
11	chr17:17415000-17426000	Strong transcription	Liver	Liver
12	chr17:17415400-17425600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr17:17416200-17425600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr17:17416200-17425600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr17:17416200-17425600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr17:17417600-17429400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr17:17418200-17478000	Weak transcription	Primary T cells from cord blood	blood
18	chr17:17419200-17425800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr17:17419200-17426200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:17419400-17426400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr17:17419400-17430800	Weak transcription	Placenta	Placenta
22	chr17:17419600-17425800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr17:17419600-17447000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr17:17419800-17426800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr17:17420000-17425600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:17420000-17425800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr17:17420000-17426400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:17420000-17426400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr17:17420000-17426400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr17:17420000-17426600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr17:17420000-17427000	Weak transcription	HepG2	liver
32	chr17:17420000-17428600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr17:17420000-17429600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:17420000-17429800	Weak transcription	Right Ventricle	heart
35	chr17:17420200-17425600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr17:17420400-17426200	Strong transcription	Fetal Intestine Small	intestine
37	chr17:17420600-17425600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr17:17420600-17426400	Weak transcription	Stomach Mucosa	stomach
39	chr17:17420600-17434400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr17:17420800-17425600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr17:17421000-17425400	Weak transcription	Pancreas	Pancrea
42	chr17:17421000-17439200	Weak transcription	HSMM	muscle
43	chr17:17421400-17425200	Weak transcription	Fetal Thymus	thymus
44	chr17:17421600-17425400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:17421800-17427600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr17:17422000-17425600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr17:17422200-17426000	Weak transcription	Fetal Heart	heart
48	chr17:17422400-17425800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr17:17422800-17425400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:17423000-17425400	Strong transcription	Lung	lung

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