Variant report

Variant	rs41274394
Chromosome Location	chr9:96215180-96215181
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:94)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:94 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr9:96215134-96216730	Hela-S3	cervix:	n/a	n/a
2	MAX	chr9:96215042-96215719	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr9:96215058-96216293	GM12892	blood:	n/a	n/a
4	MAX	chr9:96212517-96216356	A549	lung:	n/a	chr9:96212814-96212824
5	POLR2A	chr9:96213063-96216221	Raji	blood:	n/a	n/a
6	STAT5A	chr9:96214929-96216256	GM12878	blood:	n/a	n/a
7	YY1	chr9:96213119-96215238	SK-N-SH	brain:	n/a	chr9:96214044-96214055 chr9:96214043-96214057 chr9:96215157-96215171 chr9:96214044-96214058 chr9:96213851-96213860 chr9:96214046-96214055 chr9:96213846-96213860
8	TBP	chr9:96212733-96216257	K562	blood:	n/a	n/a
9	POLR2A	chr9:96215176-96215240	HUVEC	blood vessel:	n/a	n/a
10	POLR2A	chr9:96215076-96215272	MCF-7	breast:	n/a	n/a
11	POLR2A	chr9:96214157-96216347	GM12878	blood:	n/a	n/a
12	TAL1	chr9:96215167-96216108	K562	blood:	n/a	n/a
13	POLR2A	chr9:96215014-96216268	PFSK-1	brain:	n/a	n/a
14	SMC3	chr9:96214317-96215302	Hela-S3	cervix:	n/a	n/a
15	GTF2B	chr9:96215082-96215257	K562	blood:	n/a	n/a
16	UBTF	chr9:96213254-96215502	K562	blood:	n/a	n/a
17	CTBP2	chr9:96215143-96216116	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr9:96215178-96215421	GM12891	blood:	n/a	n/a
19	RELA	chr9:96215144-96216246	GM15510	blood:	n/a	n/a
20	POLR2A	chr9:96214153-96216292	SK-N-MC	brain:	n/a	n/a
21	POLR2A	chr9:96215004-96216313	MCF-7	breast:	n/a	n/a
22	MAX	chr9:96214228-96215181	MCF-7	breast:	n/a	n/a
23	POLR2A	chr9:96215088-96216202	K562	blood:	n/a	n/a
24	POLR2A	chr9:96215080-96215470	GM12878	blood:	n/a	n/a
25	MYBL2	chr9:96215132-96215999	HepG2	liver:	n/a	n/a
26	E2F4	chr9:96215086-96215286	MCF10A-Er-Src	breast:	n/a	chr9:96215160-96215170
27	MYC	chr9:96212612-96216137	K562	blood:	n/a	chr9:96212814-96212824
28	POLR2A	chr9:96214984-96216214	IMR90	lung:	n/a	n/a
29	POLR2A	chr9:96212686-96215378	NB4	blood:	n/a	n/a
30	POLR2A	chr9:96214286-96217706	GM12891	blood:	n/a	n/a
31	POLR2A	chr9:96213094-96216264	GM18951	blood:	n/a	n/a
32	PML	chr9:96215117-96216235	K562	blood:	n/a	n/a
33	POLR2A	chr9:96213111-96216260	GM18526	blood:	n/a	n/a
34	MAX	chr9:96212565-96216280	A549	lung:	n/a	chr9:96212814-96212824
35	POLR2A	chr9:96212689-96216511	MCF10A-Er-Src	breast:	n/a	n/a
36	MYC	chr9:96212616-96216094	K562	blood:	n/a	chr9:96212814-96212824
37	MAX	chr9:96212663-96216136	Hela-S3	cervix:	n/a	chr9:96212814-96212824
38	POLR2A	chr9:96213091-96216250	GM12892	blood:	n/a	n/a
39	SP1	chr9:96215087-96216385	HCT-116	colon:	n/a	chr9:96215878-96215889
40	POLR2A	chr9:96215081-96216180	GM12891	blood:	n/a	n/a
41	MXI1	chr9:96215131-96216348	Hela-S3	cervix:	n/a	n/a
42	WRNIP1	chr9:96215074-96216258	GM12878	blood:	n/a	n/a
43	POLR2A	chr9:96215139-96216201	ProgFib	skin:	n/a	n/a
44	PML	chr9:96214191-96216404	GM12878	blood:	n/a	n/a
45	POLR2A	chr9:96214977-96216271	K562	blood:	n/a	n/a
46	TAF1	chr9:96215043-96215312	K562	blood:	n/a	n/a
47	UBTF	chr9:96212715-96216188	K562	blood:	n/a	n/a
48	POLR2A	chr9:96215038-96216295	HL-60	blood:	n/a	n/a
49	TEAD4	chr9:96215159-96216165	K562	blood:	n/a	n/a
50	MAX	chr9:96212630-96215350	NB4	blood:	n/a	chr9:96212814-96212824

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:96212024..96217170-chr9:96326121..96330116,7	MCF-7	breast:
2	chr9:96213805..96216467-chr9:96293601..96296819,4	MCF-7	breast:
3	chr9:95895534..95897628-chr9:96214404..96216660,2	MCF-7	breast:
4	chr9:96213362..96216144-chr9:96327494..96330556,6	K562	blood:
5	chr9:96210381..96218248-chr9:96327402..96333234,10	MCF-7	breast:
6	chr9:95857571..95862229-chr9:96211597..96216359,5	K562	blood:
7	chr9:96136909..96139271-chr9:96213401..96215594,2	MCF-7	breast:
8	chr9:95856800..95859803-chr9:96212504..96215667,3	MCF-7	breast:
9	chr9:96072987..96083429-chr9:96209751..96218385,15	MCF-7	breast:
10	chr9:96214499..96217099-chr9:96338317..96340265,2	K562	blood:
11	chr9:95870093..95872225-chr9:96214291..96216786,2	K562	blood:
12	chr9:95858239..95860012-chr9:96214576..96216562,2	MCF-7	breast:
13	chr9:95893830..95897202-chr9:96212872..96217148,4	MCF-7	breast:
14	chr9:96213362..96215557-chr9:96327494..96329016,2	K562	blood:
15	chr9:96211672..96218862-chr9:96335264..96341672,16	MCF-7	breast:
16	chr8:91656166..91658679-chr9:96213011..96215220,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM120AOS-3	chr9:96215022-96215539	NONHSAT133259
2	lnc-FAM120AOS-3	chr9:96215022-96215539	NONHSAT133260

No data

Variant related genes	Relation type
FAM120AOS	TF binding region
ENSG00000246792	Chromatin interaction
ENSG00000263875	Chromatin interaction
ENSG00000200570	Chromatin interaction
ENSG00000180694	Chromatin interaction
ENSG00000223446	Chromatin interaction
ENSG00000131669	Chromatin interaction
ENSG00000165233	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000165238	Chromatin interaction
ENSG00000197724	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10115890	0.94[EUR][1000 genomes]
rs10119044	0.94[EUR][1000 genomes]
rs10119048	0.94[EUR][1000 genomes]
rs10120391	0.94[EUR][1000 genomes]
rs10121801	0.94[EUR][1000 genomes]
rs10992730	0.94[EUR][1000 genomes]
rs12345304	0.94[EUR][1000 genomes]
rs12345623	0.94[EUR][1000 genomes]
rs16909145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16909167	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16909202	1.00[EUR][1000 genomes]
rs16909214	1.00[EUR][1000 genomes]
rs16909308	1.00[AMR][1000 genomes]
rs2001587	1.00[AMR][1000 genomes]
rs2001588	1.00[AMR][1000 genomes]
rs2398854	1.00[AMR][1000 genomes]
rs35505758	1.00[AMR][1000 genomes]
rs41274380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41274382	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41274392	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41274432	1.00[AMR][1000 genomes]
rs60016166	1.00[AMR][1000 genomes]
rs6479486	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7020585	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7027881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7030805	1.00[AMR][1000 genomes]
rs7031483	1.00[EUR][1000 genomes]
rs7035026	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73522240	1.00[AMR][1000 genomes]
rs73522243	1.00[AMR][1000 genomes]
rs73522271	1.00[AMR][1000 genomes]
rs73522273	1.00[AMR][1000 genomes]
rs73522292	1.00[AMR][1000 genomes]
rs73522296	1.00[AMR][1000 genomes]
rs73523904	1.00[AMR][1000 genomes]
rs73523906	1.00[AMR][1000 genomes]
rs73523907	1.00[AMR][1000 genomes]
rs73651207	0.94[EUR][1000 genomes]
rs73651208	0.94[EUR][1000 genomes]
rs7849843	0.94[EUR][1000 genomes]
rs7864950	0.94[EUR][1000 genomes]
rs7867699	0.94[EUR][1000 genomes]
rs7868092	0.94[EUR][1000 genomes]
rs7870558	1.00[AMR][1000 genomes]
rs7873803	1.00[EUR][1000 genomes]
rs7875378	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96212200-96216200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr9:96212400-96216000	Active TSS	NHLF	lung
3	chr9:96212400-96216200	Active TSS	Fetal Kidney	kidney
4	chr9:96212400-96216400	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr9:96212400-96216400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr9:96212400-96216400	Active TSS	A549	lung
7	chr9:96212400-96216400	Active TSS	HSMM	muscle
8	chr9:96212400-96216600	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr9:96212400-96216800	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr9:96212400-96216800	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr9:96212400-96217000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:96212400-96217000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr9:96212600-96216400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:96212600-96216400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr9:96212600-96216400	Active TSS	Aorta	Aorta
16	chr9:96212600-96216400	Active TSS	Ovary	ovary
17	chr9:96212600-96216400	Active TSS	NHDF-Ad	bronchial
18	chr9:96212600-96216600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr9:96212600-96216600	Active TSS	Sigmoid Colon	Sigmoid Colon
20	chr9:96212600-96217000	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr9:96212600-96217200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr9:96212600-96218400	Active TSS	GM12878-XiMat	blood
23	chr9:96212800-96216200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr9:96212800-96216200	Active TSS	Muscle Satellite Cultured Cells	--
25	chr9:96212800-96216200	Active TSS	Fetal Lung	lung
26	chr9:96212800-96216200	Active TSS	Gastric	stomach
27	chr9:96212800-96216200	Active TSS	Pancreas	Pancrea
28	chr9:96212800-96216200	Active TSS	Rectal Smooth Muscle	rectum
29	chr9:96212800-96216200	Active TSS	Hela-S3	cervix
30	chr9:96212800-96216400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr9:96212800-96216400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:96212800-96216400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:96212800-96216400	Active TSS	Esophagus	oesophagus
34	chr9:96212800-96216400	Active TSS	Fetal Intestine Small	intestine
35	chr9:96212800-96216400	Active TSS	Fetal Stomach	stomach
36	chr9:96212800-96216400	Active TSS	Small Intestine	intestine
37	chr9:96212800-96216600	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr9:96212800-96216600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:96212800-96216600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr9:96212800-96216600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:96212800-96216600	Active TSS	Psoas Muscle	Psoas
42	chr9:96212800-96216600	Active TSS	K562	blood
43	chr9:96212800-96216800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr9:96213000-96216200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr9:96213000-96216200	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr9:96213000-96216200	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr9:96213000-96216200	Active TSS	Brain Cingulate Gyrus	brain
48	chr9:96213000-96216200	Active TSS	Brain Hippocampus Middle	brain
49	chr9:96213000-96216200	Active TSS	Colon Smooth Muscle	Colon
50	chr9:96213000-96216200	Active TSS	Fetal Brain Male	brain

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