Variant report

Variant	rs2302416
Chromosome Location	chr17:15906428-15906429
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	chr17:15906093-15910039	A549	lung:	n/a	n/a
2	CTCF	chr17:15906360-15906510	GM12875	blood:	n/a	n/a
3	STAT3	chr17:15906276-15906450	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:15876176..15878196-chr17:15903917..15906445,2	K562	blood:
2	chr17:15905164..15907778-chr17:15930822..15933599,2	K562	blood:
3	chr17:15900606..15905101-chr17:15906142..15909387,7	K562	blood:
4	chr17:15905982..15907631-chr17:15908656..15910993,3	K562	blood:

Variant related genes	Relation type
ZSWIM7	TF binding region
ENSG00000011295	Chromatin interaction
ENSG00000214941	Chromatin interaction
ENSG00000170425	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11868890	1.00[ASN][1000 genomes]
rs11868910	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11871236	0.82[JPT][hapmap]
rs12603744	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6502487	0.82[JPT][hapmap]
rs7211668	1.00[ASN][1000 genomes]
rs7211756	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7217602	0.88[ASN][1000 genomes]
rs7225284	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8071733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8072652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8075049	1.00[ASN][1000 genomes]
rs8075244	1.00[ASN][1000 genomes]
rs8076538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
2	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
4	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS 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 miRNA target site	177 gene(s)	inside rSNPs	diseases
5	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS 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	35 gene(s)	inside rSNPs	diseases
7	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
9	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv907709	chr17:15851196-15937487	Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS 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	28 gene(s)	inside rSNPs	diseases
11	nsv907708	chr17:15851196-15950751	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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	30 gene(s)	inside rSNPs	diseases
12	nsv1057493	chr17:15852125-15930718	Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv543215	chr17:15852125-15930718	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	nsv907710	chr17:15854257-15950751	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1062220	chr17:15869557-16093156	Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS 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	36 gene(s)	inside rSNPs	diseases
16	nsv1064878	chr17:15869557-16097241	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
17	nsv1055173	chr17:15875935-16097241	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
18	nsv1056157	chr17:15890584-16088473	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15903800-15907000	Weak transcription	Aorta	Aorta
2	chr17:15904000-15910800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:15904200-15907400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:15904400-15906600	Genic enhancers	Left Ventricle	heart
5	chr17:15904400-15912600	Strong transcription	Fetal Muscle Trunk	muscle
6	chr17:15904600-15906600	ZNF genes & repeats	A549	lung
7	chr17:15904600-15912200	Strong transcription	Primary B cells from cord blood	blood
8	chr17:15904600-15912600	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr17:15904600-15913400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr17:15904800-15906800	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr17:15904800-15907000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr17:15904800-15908000	Weak transcription	Right Ventricle	heart
13	chr17:15904800-15909400	Strong transcription	Fetal Kidney	kidney
14	chr17:15904800-15912000	Strong transcription	Fetal Brain Female	brain
15	chr17:15904800-15912400	Strong transcription	Fetal Thymus	thymus
16	chr17:15904800-15912600	Strong transcription	Colon Smooth Muscle	Colon
17	chr17:15904800-15912600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr17:15904800-15912600	Strong transcription	Fetal Lung	lung
19	chr17:15904800-15912600	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr17:15904800-15914400	Strong transcription	Liver	Liver
21	chr17:15904800-15915800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr17:15904800-15917200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr17:15905000-15907200	Weak transcription	Fetal Brain Male	brain
24	chr17:15905000-15908800	Strong transcription	Ovary	ovary
25	chr17:15905000-15909200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr17:15905000-15909400	Strong transcription	Pancreas	Pancrea
27	chr17:15905000-15912200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:15905000-15912200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr17:15905000-15912200	Strong transcription	Brain Substantia Nigra	brain
30	chr17:15905000-15912200	Strong transcription	Colonic Mucosa	Colon
31	chr17:15905000-15912200	Strong transcription	Fetal Muscle Leg	muscle
32	chr17:15905000-15912200	Strong transcription	Fetal Stomach	stomach
33	chr17:15905000-15912600	Strong transcription	Brain Angular Gyrus	brain
34	chr17:15905000-15912600	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr17:15905000-15912600	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr17:15905000-15912600	Strong transcription	Stomach Smooth Muscle	stomach
37	chr17:15905000-15912600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr17:15905000-15913200	Strong transcription	NHDF-Ad	bronchial
39	chr17:15905000-15914600	Weak transcription	Stomach Mucosa	stomach
40	chr17:15905000-15915000	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr17:15905000-15915200	Strong transcription	HSMM	muscle
42	chr17:15905000-15915600	Strong transcription	NH-A	brain
43	chr17:15905000-15915800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:15905000-15916000	Strong transcription	Osteobl	bone
45	chr17:15905000-15916800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr17:15905000-15939600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr17:15905000-15946400	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr17:15905200-15906600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr17:15905200-15907400	Strong transcription	Adipose Nuclei	Adipose
50	chr17:15905200-15907800	Strong transcription	HSMMtube	muscle

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