Variant report

Variant	rs17161726
Chromosome Location	chr7:99008395-99008396
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr7:99008369-99008561	K562	blood:	n/a	n/a
2	POLR2A	chr7:99007979-99008937	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:99008237-99008687	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99006486..99009069-chr7:99155267..99158163,2	K562	blood:
2	chr7:99004207..99009187-chr7:99032699..99039268,13	MCF-7	breast:
3	chr7:99004357..99008691-chr7:99061400..99066308,7	K562	blood:
4	chr7:98970407..98975516-chr7:99002028..99009396,17	MCF-7	breast:
5	chr7:98970740..98974571-chr7:99004724..99008680,16	MCF-7	breast:

No data

Variant related genes	Relation type
BUD31	TF binding region
PDAP1	TF binding region
ENSG00000272647	Chromatin interaction
ENSG00000221909	Chromatin interaction
ENSG00000248919	Chromatin interaction
ENSG00000130429	Chromatin interaction
ENSG00000106246	Chromatin interaction
ENSG00000241468	Chromatin interaction
ENSG00000197343	Chromatin interaction
ENSG00000160917	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10251282	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279308	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1045012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734	0.89[ASN][1000 genomes]
rs11972210	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11978089	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17161700	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17854665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2003499	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2293256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404487	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404488	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28377312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28460612	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28558950	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28753399	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34943973	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3528	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823813	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41385645	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs45441991	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45448997	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45451992	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45461000	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45492501	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45529541	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45555335	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs45592335	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55927283	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55942267	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56167514	0.94[ASN][1000 genomes]
rs57367781	0.94[ASN][1000 genomes]
rs57832867	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59240302	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59574285	0.89[ASN][1000 genomes]
rs59672032	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6651108	0.84[MEX][hapmap]
rs6955490	1.00[JPT][hapmap]
rs6956305	0.89[ASN][1000 genomes]
rs6974831	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[ASN][1000 genomes]
rs73397447	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397481	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397499	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401507	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401510	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401516	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73403247	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73403272	0.94[ASN][1000 genomes]
rs73403286	0.94[ASN][1000 genomes]
rs73403290	0.94[ASN][1000 genomes]
rs73405247	0.94[ASN][1000 genomes]
rs73711280	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73711293	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73711294	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73713507	0.94[ASN][1000 genomes]
rs73713531	0.89[ASN][1000 genomes]
rs73713580	0.89[ASN][1000 genomes]
rs7794068	0.94[ASN][1000 genomes]
rs7805661	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[ASN][1000 genomes]
rs917152	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs952319	1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831069	chr7:98948128-99127584	Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 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	chr7:99007200-99035400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:99007400-99008400	Weak transcription	Pancreas	Pancrea
3	chr7:99007400-99010600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:99007600-99008400	Genic enhancers	Primary B cells from cord blood	blood
5	chr7:99007600-99008400	Weak transcription	Esophagus	oesophagus
6	chr7:99007600-99008600	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr7:99007600-99008600	Transcr. at gene 5' and 3'	K562	blood
8	chr7:99007600-99010000	Weak transcription	Ovary	ovary
9	chr7:99007600-99015000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr7:99007800-99008400	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:99007800-99008400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:99007800-99008400	Genic enhancers	Brain Hippocampus Middle	brain
13	chr7:99007800-99008400	Genic enhancers	Fetal Thymus	thymus
14	chr7:99007800-99008400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
15	chr7:99007800-99008400	Transcr. at gene 5' and 3'	NHLF	lung
16	chr7:99007800-99008600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
17	chr7:99007800-99008600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:99007800-99008600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:99007800-99008600	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr7:99007800-99008600	Genic enhancers	Colon Smooth Muscle	Colon
21	chr7:99007800-99008600	Genic enhancers	Duodenum Smooth Muscle	Duodenum
22	chr7:99007800-99008600	Transcr. at gene 5' and 3'	Psoas Muscle	Psoas
23	chr7:99007800-99008600	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr7:99007800-99008600	Genic enhancers	Monocytes-CD14+_RO01746	blood
25	chr7:99007800-99008800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr7:99007800-99008800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
27	chr7:99007800-99008800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr7:99007800-99008800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
29	chr7:99007800-99012000	Strong transcription	Placenta Amnion	Placenta Amnion
30	chr7:99007800-99024000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:99008000-99008400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:99008000-99008400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:99008000-99008400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:99008000-99008400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr7:99008000-99008400	Genic enhancers	Muscle Satellite Cultured Cells	--
36	chr7:99008000-99008400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:99008000-99008400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:99008000-99008400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:99008000-99008400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:99008000-99008400	Genic enhancers	Fetal Brain Male	brain
41	chr7:99008000-99008400	Genic enhancers	Fetal Intestine Small	intestine
42	chr7:99008000-99008400	Genic enhancers	Fetal Kidney	kidney
43	chr7:99008000-99008400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr7:99008000-99008400	Genic enhancers	Fetal Lung	lung
45	chr7:99008000-99008400	Genic enhancers	Rectal Mucosa Donor 31	rectum
46	chr7:99008000-99008400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
47	chr7:99008000-99008400	Genic enhancers	Stomach Smooth Muscle	stomach
48	chr7:99008000-99008400	Enhancers	NHDF-Ad	bronchial
49	chr7:99008000-99008600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:99008000-99008600	Genic enhancers	Primary neutrophils fromperipheralblood	blood

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