Variant report

Variant	rs12947898
Chromosome Location	chr17:45194088-45194089
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	chr17:45190767-45195015	K562	blood:	n/a	n/a
2	ZNF384	chr17:45193824-45194214	K562	blood:	n/a	n/a
3	RCOR1	chr17:45194020-45194147	K562	blood:	n/a	n/a
4	JUND	chr17:45193944-45194201	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000221016	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11079759	1.00[ASN][1000 genomes]
rs11079761	1.00[ASN][1000 genomes]
rs11570441	1.00[ASN][1000 genomes]
rs11570451	1.00[ASN][1000 genomes]
rs11570487	1.00[ASN][1000 genomes]
rs11570506	1.00[ASN][1000 genomes]
rs11570520	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570529	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570543	1.00[ASN][1000 genomes]
rs11570557	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570562	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570568	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11570570	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11869591	1.00[ASN][1000 genomes]
rs12937083	1.00[ASN][1000 genomes]
rs12937292	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12939917	1.00[ASN][1000 genomes]
rs12941464	1.00[ASN][1000 genomes]
rs12947008	1.00[ASN][1000 genomes]
rs12948241	1.00[ASN][1000 genomes]
rs12950715	1.00[ASN][1000 genomes]
rs1515753	1.00[ASN][1000 genomes]
rs16941640	1.00[ASN][1000 genomes]
rs2040602	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317378	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34006043	1.00[ASN][1000 genomes]
rs34735768	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34885810	1.00[ASN][1000 genomes]
rs35536045	1.00[ASN][1000 genomes]
rs35751916	1.00[ASN][1000 genomes]
rs59581991	1.00[ASN][1000 genomes]
rs66518624	1.00[ASN][1000 genomes]
rs66976195	1.00[ASN][1000 genomes]
rs67551364	1.00[ASN][1000 genomes]
rs67777457	1.00[ASN][1000 genomes]
rs71375393	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71375401	1.00[ASN][1000 genomes]
rs72823426	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731790	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7502265	1.00[ASN][1000 genomes]
rs954344	1.00[ASN][1000 genomes]
rs954345	1.00[ASN][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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45183400-45194200	Weak transcription	HSMM	muscle
2	chr17:45183400-45194200	Weak transcription	NHLF	lung
3	chr17:45183400-45197400	Weak transcription	HSMMtube	muscle
4	chr17:45185600-45206400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr17:45186800-45197800	Weak transcription	Fetal Brain Female	brain
6	chr17:45187200-45194200	Weak transcription	Osteobl	bone
7	chr17:45187800-45194400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr17:45188000-45194200	Weak transcription	A549	lung
9	chr17:45188200-45197800	Weak transcription	Hela-S3	cervix
10	chr17:45189000-45196600	Weak transcription	NHDF-Ad	bronchial
11	chr17:45189800-45198000	Weak transcription	Fetal Stomach	stomach
12	chr17:45190000-45203200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:45191000-45194200	Weak transcription	HUVEC	blood vessel
14	chr17:45191000-45197200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr17:45191000-45202000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr17:45191200-45197800	Weak transcription	Small Intestine	intestine
17	chr17:45191200-45202600	Weak transcription	Right Ventricle	heart
18	chr17:45191400-45194200	Weak transcription	GM12878-XiMat	blood
19	chr17:45191400-45197200	Weak transcription	Fetal Heart	heart
20	chr17:45191400-45197200	Weak transcription	Fetal Intestine Large	intestine
21	chr17:45191600-45195600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr17:45191600-45196800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr17:45191600-45197600	Weak transcription	HepG2	liver
24	chr17:45191800-45197600	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr17:45191800-45198000	Weak transcription	Thymus	Thymus
26	chr17:45192000-45194200	Weak transcription	Dnd41	blood
27	chr17:45192000-45198200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr17:45192200-45194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr17:45192200-45194200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:45192200-45194200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr17:45192200-45194200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr17:45192200-45194200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:45192200-45194200	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr17:45192200-45194200	Weak transcription	NH-A	brain
35	chr17:45192200-45198000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr17:45192200-45198000	Weak transcription	Left Ventricle	heart
37	chr17:45192400-45194200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr17:45192400-45194200	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr17:45192400-45195400	Weak transcription	Liver	Liver
40	chr17:45192400-45196000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr17:45192400-45196000	Weak transcription	K562	blood
42	chr17:45192400-45196600	Weak transcription	Placenta	Placenta
43	chr17:45192400-45197000	Weak transcription	Primary B cells from cord blood	blood
44	chr17:45192400-45197400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr17:45192400-45197600	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr17:45192400-45212800	Weak transcription	Gastric	stomach
47	chr17:45192600-45196000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr17:45192600-45197200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr17:45192600-45197200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr17:45192600-45197400	Weak transcription	Psoas Muscle	Psoas

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