Variant report

Variant	rs72750501
Chromosome Location	chr9:95104920-95104921
allele	C/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	CTCF	chr9:95104880-95105030	BJ	skin:	n/a	n/a
2	CTCF	chr9:95104800-95104950	AG04450	lung:	n/a	n/a
3	CTCF	chr9:95104820-95104970	AG09319	gingival:	n/a	n/a
4	RAD21	chr9:95103676-95105921	SK-N-SH	brain:	n/a	chr9:95105322-95105329 chr9:95103975-95103988

No.	Distal block	Cell Line	Cell type
1	chr9:95094639..95096742-chr9:95103960..95106422,2	K562	blood:
2	chr9:95100997..95103604-chr9:95103961..95105518,2	MCF-7	breast:
3	chr9:95055395..95057599-chr9:95104586..95106334,2	K562	blood:
4	chr9:95104810..95105668-chr9:95396756..95397509,3	MCF-7	breast:
5	chr9:95104863..95105872-chr9:95201522..95202100,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229530	TF binding region
ENSG00000196305	Chromatin interaction

Extended variants
information (count: 162 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:157)

rs_ID	r²[population]
rs15717	1.00[EUR][1000 genomes]
rs16908281	1.00[EUR][1000 genomes]
rs17518691	0.88[EUR][1000 genomes]
rs17518754	0.88[EUR][1000 genomes]
rs17519320	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17519397	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17519453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17519719	1.00[AMR][1000 genomes]
rs17519922	1.00[AMR][1000 genomes]
rs17590748	1.00[EUR][1000 genomes]
rs17591007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17591372	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17591776	1.00[AMR][1000 genomes]
rs17591958	1.00[AMR][1000 genomes]
rs17678735	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2044540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2230405	0.88[EUR][1000 genomes]
rs2236343	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2236344	1.00[EUR][1000 genomes]
rs2236529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2273860	0.88[EUR][1000 genomes]
rs2274967	0.94[EUR][1000 genomes]
rs28365880	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34758505	0.93[AMR][1000 genomes]
rs34860658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3736834	1.00[EUR][1000 genomes]
rs3736836	1.00[EUR][1000 genomes]
rs3737147	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3758228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3758230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3758231	1.00[EUR][1000 genomes]
rs3758232	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3780340	0.88[EUR][1000 genomes]
rs3780341	0.88[EUR][1000 genomes]
rs3780342	0.88[EUR][1000 genomes]
rs3780348	1.00[AMR][1000 genomes]
rs3780349	1.00[AMR][1000 genomes]
rs41276835	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41277647	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41277739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs41280223	0.88[EUR][1000 genomes]
rs41297183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41301527	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41307467	0.88[EUR][1000 genomes]
rs41312230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4298540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59083571	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59627747	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61742574	1.00[EUR][1000 genomes]
rs67546506	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72750403	0.88[EUR][1000 genomes]
rs72750404	0.88[EUR][1000 genomes]
rs72750405	0.88[EUR][1000 genomes]
rs72750407	0.88[EUR][1000 genomes]
rs72750408	0.88[EUR][1000 genomes]
rs72750409	0.88[EUR][1000 genomes]
rs72750418	0.88[EUR][1000 genomes]
rs72750419	0.83[EUR][1000 genomes]
rs72750420	0.88[EUR][1000 genomes]
rs72750421	0.88[EUR][1000 genomes]
rs72750422	0.88[EUR][1000 genomes]
rs72750426	0.88[EUR][1000 genomes]
rs72750427	0.88[EUR][1000 genomes]
rs72750430	0.88[EUR][1000 genomes]
rs72750431	0.88[EUR][1000 genomes]
rs72750432	0.88[EUR][1000 genomes]
rs72750433	0.88[EUR][1000 genomes]
rs72750434	0.88[EUR][1000 genomes]
rs72750437	0.88[EUR][1000 genomes]
rs72750438	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72750441	0.88[EUR][1000 genomes]
rs72750445	0.88[EUR][1000 genomes]
rs72750448	0.88[EUR][1000 genomes]
rs72750449	0.88[EUR][1000 genomes]
rs72750450	0.88[EUR][1000 genomes]
rs72750451	0.88[EUR][1000 genomes]
rs72750454	0.88[EUR][1000 genomes]
rs72750456	0.88[EUR][1000 genomes]
rs72750457	0.94[EUR][1000 genomes]
rs72750458	1.00[EUR][1000 genomes]
rs72750463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750469	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750474	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750477	1.00[EUR][1000 genomes]
rs72750478	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750483	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750485	1.00[EUR][1000 genomes]
rs72750487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750490	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72750491	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72750493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750494	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72750498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750500	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72750502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752403	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752405	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752406	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72752419	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72752425	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752427	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72752435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72752442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752443	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752463	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72752467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752469	1.00[AMR][1000 genomes]
rs72752471	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752472	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72752475	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752477	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752479	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752482	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752483	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752484	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752485	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752486	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752492	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752493	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752497	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72752502	1.00[AMR][1000 genomes]
rs72754403	1.00[AMR][1000 genomes]
rs72754404	1.00[AMR][1000 genomes]
rs72754408	1.00[AMR][1000 genomes]
rs72754410	1.00[AMR][1000 genomes]
rs72754411	1.00[AMR][1000 genomes]
rs72754415	1.00[AMR][1000 genomes]
rs72754418	1.00[AMR][1000 genomes]
rs72754420	1.00[AMR][1000 genomes]
rs72754421	1.00[AMR][1000 genomes]
rs72754423	1.00[AMR][1000 genomes]
rs72754425	1.00[AMR][1000 genomes]
rs72754427	1.00[AMR][1000 genomes]
rs7872423	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs921122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats 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	49 gene(s)	inside rSNPs	diseases
4	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1045165	chr9:95057462-95138564	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr9:95088600-95108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:95088800-95111200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:95088800-95111600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr9:95089000-95105600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr9:95089000-95110200	Weak transcription	HSMM	muscle
6	chr9:95089000-95112200	Weak transcription	Adipose Nuclei	Adipose
7	chr9:95089200-95110000	Weak transcription	Brain Hippocampus Middle	brain
8	chr9:95089400-95107000	Weak transcription	Brain Germinal Matrix	brain
9	chr9:95089400-95112000	Weak transcription	NHLF	lung
10	chr9:95089400-95113200	Weak transcription	HUVEC	blood vessel
11	chr9:95089400-95116400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr9:95089600-95111200	Weak transcription	NHDF-Ad	bronchial
13	chr9:95089600-95121800	Weak transcription	Fetal Heart	heart
14	chr9:95089800-95112000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr9:95090400-95118200	Weak transcription	HepG2	liver
16	chr9:95091000-95120000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr9:95092200-95109800	Weak transcription	Gastric	stomach
18	chr9:95094600-95105000	Strong transcription	Dnd41	blood
19	chr9:95096000-95105400	Weak transcription	Osteobl	bone
20	chr9:95097400-95112800	Weak transcription	Fetal Intestine Small	intestine
21	chr9:95100200-95112000	Weak transcription	Fetal Lung	lung
22	chr9:95100600-95110400	Weak transcription	Brain Angular Gyrus	brain
23	chr9:95100800-95116600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:95101200-95113000	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr9:95101400-95110600	Weak transcription	Hela-S3	cervix
26	chr9:95101600-95106200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr9:95101600-95116600	Weak transcription	Brain Substantia Nigra	brain
28	chr9:95102000-95110400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr9:95102000-95113200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr9:95102000-95114000	Weak transcription	Lung	lung
31	chr9:95102000-95116600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr9:95102000-95121000	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:95102200-95110200	Weak transcription	Spleen	Spleen
34	chr9:95102200-95117600	Weak transcription	Fetal Brain Female	brain
35	chr9:95102200-95121400	Weak transcription	A549	lung
36	chr9:95102400-95105800	Weak transcription	HMEC	breast
37	chr9:95102400-95106000	Weak transcription	Fetal Brain Male	brain
38	chr9:95102400-95111200	Weak transcription	Fetal Stomach	stomach
39	chr9:95102400-95112800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:95102400-95116200	Weak transcription	Aorta	Aorta
41	chr9:95102600-95105400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr9:95102600-95106800	Weak transcription	Primary B cells from peripheral blood	blood
43	chr9:95102600-95109800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr9:95102600-95110200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr9:95102600-95110800	Weak transcription	NHEK	skin
46	chr9:95102600-95112600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr9:95102600-95112600	Weak transcription	Fetal Intestine Large	intestine
48	chr9:95102600-95113000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr9:95102600-95116200	Weak transcription	Primary T cells from cord blood	blood
50	chr9:95102600-95116400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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