Variant report

Variant	rs57252569
Chromosome Location	chr9:94115502-94115503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:94114946..94116593-chr9:94118141..94120132,2	K562	blood:
2	chr9:94113397..94115728-chr9:94119035..94121876,2	MCF-7	breast:
3	chr9:94115075..94117611-chr9:94184527..94186673,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165030	Chromatin interaction
ENSG00000148090	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10991804	0.92[EUR][1000 genomes]
rs10991805	0.92[EUR][1000 genomes]
rs10991806	0.92[EUR][1000 genomes]
rs10991817	1.00[EUR][1000 genomes]
rs10991818	1.00[EUR][1000 genomes]
rs10991822	1.00[EUR][1000 genomes]
rs10991830	1.00[EUR][1000 genomes]
rs12236197	1.00[EUR][1000 genomes]
rs12236200	1.00[EUR][1000 genomes]
rs12236228	1.00[EUR][1000 genomes]
rs16907283	1.00[EUR][1000 genomes]
rs16907285	0.92[EUR][1000 genomes]
rs56673856	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56703453	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56878940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56924073	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57231133	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57417571	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57891613	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58116121	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58154704	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58170057	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58543156	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59049485	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59101284	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59183509	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59271728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59300141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59555429	1.00[EUR][1000 genomes]
rs59752488	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59800170	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59849416	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60448531	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60709727	0.92[EUR][1000 genomes]
rs60833404	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60908817	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61330200	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61566702	1.00[EUR][1000 genomes]
rs61613297	0.83[AFR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7031841	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7042607	1.00[EUR][1000 genomes]
rs7043392	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7045388	1.00[EUR][1000 genomes]
rs73497200	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73503277	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73503296	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73505203	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73505205	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73505206	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7849844	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7863280	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7866310	1.00[EUR][1000 genomes]
rs7868771	0.91[AFR][1000 genomes]
rs7870604	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7871207	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893570	chr9:93973938-94148084	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482877	chr9:93979351-94157734	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv893571	chr9:94072113-94202927	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:94052000-94119200	Weak transcription	Small Intestine	intestine
2	chr9:94093200-94122600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:94097800-94121600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr9:94101000-94122400	Weak transcription	HUVEC	blood vessel
5	chr9:94102000-94122400	Weak transcription	HMEC	breast
6	chr9:94102400-94119400	Weak transcription	Psoas Muscle	Psoas
7	chr9:94104400-94122800	Weak transcription	Colonic Mucosa	Colon
8	chr9:94104600-94121200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:94104600-94121400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr9:94104600-94122000	Weak transcription	Gastric	stomach
11	chr9:94104800-94116200	Weak transcription	Colon Smooth Muscle	Colon
12	chr9:94104800-94116600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr9:94104800-94116600	Weak transcription	HSMM	muscle
14	chr9:94104800-94117000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:94104800-94117000	Weak transcription	Dnd41	blood
16	chr9:94104800-94119800	Weak transcription	Ovary	ovary
17	chr9:94104800-94121200	Weak transcription	Brain Anterior Caudate	brain
18	chr9:94104800-94121400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr9:94104800-94121400	Weak transcription	Brain Substantia Nigra	brain
20	chr9:94104800-94121800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:94104800-94122000	Weak transcription	Spleen	Spleen
22	chr9:94104800-94122400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr9:94104800-94122400	Weak transcription	NHLF	lung
24	chr9:94104800-94122600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:94104800-94122600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr9:94104800-94122600	Weak transcription	HSMMtube	muscle
27	chr9:94104800-94123600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:94105000-94118600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:94105200-94116400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr9:94105200-94116600	Weak transcription	K562	blood
31	chr9:94105200-94120600	Weak transcription	Fetal Heart	heart
32	chr9:94105200-94121400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr9:94105200-94121800	Weak transcription	Fetal Brain Male	brain
34	chr9:94105200-94122600	Weak transcription	Osteobl	bone
35	chr9:94105200-94122800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr9:94105400-94116800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:94105400-94117000	Weak transcription	NHDF-Ad	bronchial
38	chr9:94105400-94122600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr9:94105600-94121000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr9:94105600-94123000	Weak transcription	Placenta	Placenta
41	chr9:94106400-94122800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr9:94108800-94122000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr9:94109800-94122600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr9:94109800-94123000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr9:94109800-94123000	Weak transcription	Esophagus	oesophagus
46	chr9:94110200-94122400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr9:94110600-94117000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr9:94110600-94119400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr9:94111000-94119600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr9:94111200-94122000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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