Variant report

Variant	rs11958444
Chromosome Location	chr5:94982455-94982456
allele	C/T
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	USF2	chr5:94982146-94983239	Hela-S3	cervix:	n/a	chr5:94982415-94982426 chr5:94982619-94982635
2	MAFK	chr5:94982213-94982772	Hela-S3	cervix:	n/a	n/a
3	JUND	chr5:94982034-94982595	T-47D	breast:	n/a	n/a
4	SP1	chr5:94982125-94983249	A549	lung:	n/a	chr5:94982434-94982443 chr5:94982435-94982444 chr5:94982544-94982556 chr5:94982398-94982410 chr5:94982434-94982443 chr5:94982433-94982445 chr5:94982400-94982409 chr5:94982433-94982445 chr5:94982434-94982444 chr5:94982546-94982555 chr5:94982545-94982554 chr5:94982399-94982408 chr5:94982544-94982556 chr5:94982398-94982410 chr5:94982434-94982444
5	GATA2	chr5:94981989-94983295	SH-SY5Y	brain:	n/a	n/a
6	NRF1	chr5:94982388-94982703	H1-hESC	embryonic stem cell:	n/a	chr5:94982538-94982549 chr5:94982435-94982444
7	CTCF	chr5:94982171-94983013	GM12878	blood:	n/a	chr5:94982539-94982552
8	POLR2A	chr5:94982155-94986478	PBDE	blood:	n/a	n/a
9	CREB1	chr5:94982268-94982656	A549	lung:	n/a	n/a
10	GTF2B	chr5:94982409-94982677	K562	blood:	n/a	n/a
11	EP300	chr5:94982054-94982616	T-47D	breast:	n/a	n/a
12	IRF1	chr5:94982136-94982830	K562	blood:	n/a	chr5:94982431-94982445 chr5:94982730-94982737 chr5:94982398-94982412
13	MAX	chr5:94982247-94983087	HUVEC	blood vessel:	n/a	chr5:94982920-94982927 chr5:94982919-94982928 chr5:94982918-94982928
14	USF1	chr5:94982055-94982813	SK-N-SH	brain:	n/a	chr5:94982415-94982426 chr5:94982619-94982635
15	E2F6	chr5:94982144-94983143	H1-hESC	embryonic stem cell:	n/a	chr5:94982435-94982444 chr5:94982545-94982554 chr5:94982226-94982235 chr5:94982399-94982408
16	TCF7L2	chr5:94982172-94982729	MCF-7	breast:	n/a	n/a
17	MAX	chr5:94982029-94983319	A549	lung:	n/a	chr5:94982920-94982927 chr5:94982919-94982928 chr5:94982918-94982928
18	EGR1	chr5:94982284-94982645	GM12878	blood:	n/a	chr5:94982540-94982553 chr5:94982436-94982449 chr5:94982492-94982506 chr5:94982434-94982444 chr5:94982437-94982446 chr5:94982433-94982447
19	GATA3	chr5:94982014-94982957	A549	lung:	n/a	n/a
20	POLR2A	chr5:94982155-94983736	GM12891	blood:	n/a	n/a
21	RAD21	chr5:94982176-94982879	H1-hESC	embryonic stem cell:	n/a	chr5:94982542-94982552
22	YY1	chr5:94982265-94982810	K562	blood:	n/a	chr5:94982435-94982444 chr5:94982540-94982554 chr5:94982618-94982629
23	GABPA	chr5:94982360-94982675	HepG2	liver:	n/a	chr5:94982435-94982444
24	NR2F2	chr5:94981919-94982886	MCF-7	breast:	n/a	n/a
25	POLR2A	chr5:94982451-94983199	GM12891	blood:	n/a	n/a
26	USF1	chr5:94982106-94982790	A549	lung:	n/a	chr5:94982415-94982426 chr5:94982619-94982635
27	TCF12	chr5:94982411-94982690	GM12878	blood:	n/a	n/a
28	EGR1	chr5:94982212-94982697	K562	blood:	n/a	chr5:94982540-94982553 chr5:94982436-94982449 chr5:94982492-94982506 chr5:94982434-94982444 chr5:94982437-94982446 chr5:94982433-94982447
29	NR3C1	chr5:94982334-94982726	ECC-1	luminal epithelium:	n/a	chr5:94982528-94982535
30	USF1	chr5:94982123-94983089	A549	lung:	n/a	chr5:94982415-94982426 chr5:94982619-94982635
31	RCOR1	chr5:94982154-94982730	K562	blood:	n/a	n/a
32	CTCF	chr5:94982340-94982490	GM12874	blood:	n/a	n/a
33	MAX	chr5:94982138-94983177	ECC-1	luminal epithelium:	n/a	chr5:94982920-94982927 chr5:94982919-94982928 chr5:94982918-94982928
34	POLR2A	chr5:94982163-94983281	Hela-S3	cervix:	n/a	n/a
35	CREB1	chr5:94982231-94983059	A549	lung:	n/a	n/a
36	USF1	chr5:94982053-94982847	HCT-116	colon:	n/a	chr5:94982415-94982426 chr5:94982619-94982635
37	JUND	chr5:94982249-94982845	A549	lung:	n/a	n/a
38	RUNX3	chr5:94982329-94983260	GM12878	blood:	n/a	n/a
39	POLR2A	chr5:94982276-94983300	MCF-7	breast:	n/a	n/a
40	ZBTB7A	chr5:94982443-94982728	HepG2	liver:	n/a	n/a
41	POLR2A	chr5:94982116-94983123	HCT-116	colon:	n/a	n/a
42	POLR2A	chr5:94982155-94983161	GM12878	blood:	n/a	n/a
43	POLR2A	chr5:94982277-94982979	GM12892	blood:	n/a	n/a
44	CTCF	chr5:94982380-94982530	HCM	heart:	n/a	n/a
45	YY1	chr5:94982416-94982975	K562	blood:	n/a	chr5:94982435-94982444 chr5:94982540-94982554 chr5:94982618-94982629
46	MYC	chr5:94982168-94983253	NB4	blood:	n/a	chr5:94982920-94982927 chr5:94982919-94982928 chr5:94982918-94982928
47	EP300	chr5:94982233-94982517	SK-N-SH_RA	brain:	n/a	n/a
48	ZEB1	chr5:94982345-94983100	GM12878	blood:	n/a	chr5:94982740-94982749
49	HDAC2	chr5:94982414-94982800	H1-hESC	embryonic stem cell:	n/a	n/a
50	TAF1	chr5:94982396-94982973	Hela-S3	cervix:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:94982427-94982477	SKMC	muscle:	n/a
2	chr5:94982427-94982477	NB4	blood:	n/a
3	chr5:94982427-94982477	HMEC	breast:	n/a
4	chr5:94982433-94982483	AG09309	skin:	n/a
5	chr5:94982427-94982477	AG04449	skin:	fetal
6	chr5:94982427-94982477	HPAEpiC	pulmonary alveolar:	n/a
7	chr5:94982427-94982477	A549	lung:	n/a
8	chr5:94982433-94982483	GM12878	blood:	n/a
9	chr5:94982433-94982483	HEK293	kidney:	embryo
10	chr5:94982433-94982483	HMEC	breast:	n/a
11	chr5:94982427-94982477	MCF-7	breast:	n/a
12	chr5:94982433-94982483	NT2-D1	testis:	n/a
13	chr5:94982427-94982477	Hepatocyte	liver:	n/a
14	chr5:94982427-94982477	BE2_C	brain:	n/a
15	chr5:94982433-94982483	SK-N-SH	brain:	n/a
16	chr5:94982427-94982477	HAEpiC	amniotic membrane:	n/a
17	chr5:94982433-94982483	PrEC	prostate:	n/a
18	chr5:94982433-94982483	GM06990	blood:	n/a
19	chr5:94982433-94982483	HAEpiC	amniotic membrane:	n/a
20	chr5:94982433-94982483	MCF-7	breast:	n/a
21	chr5:94982427-94982477	GM12892	blood:	n/a
22	chr5:94982433-94982483	AG09319	gingival:	n/a
23	chr5:94982427-94982477	SK-N-SH	brain:	n/a
24	chr5:94982427-94982477	SAEC	small airway:	n/a
25	chr5:94982433-94982483	HCT-116	colon:	n/a
26	chr5:94982427-94982477	HUVEC	blood vessel:	n/a
27	chr5:94982433-94982483	Hela-S3	cervix:	n/a
28	chr5:94982427-94982477	AG09319	gingival:	n/a
29	chr5:94982433-94982483	NH-A	brain:	n/a
30	chr5:94982433-94982483	K562	blood:	n/a
31	chr5:94982433-94982483	HepG2	liver:	n/a
32	chr5:94982433-94982483	Jurkat	blood:	n/a
33	chr5:94982433-94982483	LNCaP	prostate:	n/a
34	chr5:94982427-94982477	Caco-2	colon:	n/a
35	chr5:94982433-94982483	HRPEpiC	eye:	n/a
36	chr5:94982427-94982477	U87	brain:	n/a
37	chr5:94982433-94982483	HL-60	blood:	n/a
38	chr5:94982427-94982477	GM19239	blood:	n/a
39	chr5:94982427-94982477	BJ	skin:	n/a
40	chr5:94982427-94982477	AG04450	lung:	fetal
41	chr5:94982427-94982477	K562	blood:	n/a
42	chr5:94982433-94982483	U87	brain:	n/a
43	chr5:94982433-94982483	AG04449	skin:	fetal
44	chr5:94982433-94982483	Caco-2	colon:	n/a
45	chr5:94982427-94982477	ProgFib	skin:	n/a
46	chr5:94982433-94982483	NHDF-neo	bronchial:	n/a
47	chr5:94982427-94982477	PrEC	prostate:	n/a
48	chr5:94982433-94982483	Hepatocyte	liver:	n/a
49	chr5:94982433-94982483	HEEpiC	esophagus:	n/a
50	chr5:94982427-94982477	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:94982383..94984588-chr5:95046353..95049787,5	MCF-7	breast:
2	chr5:94981556..94984192-chr5:95101303..95104225,2	MCF-7	breast:
3	chr5:94981368..94988467-chr5:95046173..95051252,17	K562	blood:
4	chr5:94977116..95012475-chr5:95055682..95079552,215	K562	blood:
5	chr5:94982379..94987076-chr5:95045372..95049493,6	K562	blood:
6	chr5:94980512..95018354-chr5:95057997..95080764,228	K562	blood:
7	chr5:94979988..94984168-chr5:95032454..95035928,4	MCF-7	breast:
8	chr5:94888891..94893786-chr5:94981389..94987516,11	K562	blood:
9	chr5:94980020..94983633-chr5:95104411..95107623,3	K562	blood:
10	chr5:94980861..94985410-chr5:95067178..95071099,5	MCF-7	breast:
11	chr5:94889492..94895025-chr5:94981557..94985063,8	K562	blood:
12	chr5:90676216..90679010-chr5:94981409..94984145,2	K562	blood:
13	chr5:94979878..94983810-chr5:95295717..95298674,4	K562	blood:
14	chr5:94979432..94984462-chr5:95062276..95069972,15	MCF-7	breast:
15	chr5:94981340..94984731-chr5:95103817..95108133,4	K562	blood:
16	chr5:94953878..94956024-chr5:94981084..94983825,2	K562	blood:
17	chr5:94981287..94984175-chr5:95296229..95298674,3	K562	blood:
18	chr5:94981172..94985318-chr5:95169805..95176246,5	MCF-7	breast:

Variant related genes	Relation type
RFESD	TF binding region
RFESD	CpG island
ENSG00000251348	Chromatin interaction
ENSG00000251314	Chromatin interaction
ENSG00000164291	Chromatin interaction
ENSG00000251000	Chromatin interaction
ENSG00000164292	Chromatin interaction
ENSG00000118985	Chromatin interaction
ENSG00000113369	Chromatin interaction
ENSG00000250240	Chromatin interaction
ENSG00000178015	Chromatin interaction
ENSG00000198677	Chromatin interaction
ENSG00000145757	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11949257	1.00[AMR][1000 genomes]
rs11951747	0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11952880	1.00[AMR][1000 genomes]
rs11955539	1.00[AMR][1000 genomes]
rs11956137	1.00[AMR][1000 genomes]
rs11959023	1.00[AMR][1000 genomes]
rs11959236	0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs57268622	1.00[AMR][1000 genomes]
rs58799139	1.00[AMR][1000 genomes]
rs58937956	1.00[AMR][1000 genomes]
rs59564094	1.00[AMR][1000 genomes]
rs61400254	1.00[AMR][1000 genomes]
rs61733083	1.00[AMR][1000 genomes]
rs6870343	0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73147985	1.00[AMR][1000 genomes]
rs73147991	1.00[AMR][1000 genomes]
rs73149618	1.00[AMR][1000 genomes]
rs73149620	1.00[AMR][1000 genomes]
rs73149622	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73149644	1.00[AMR][1000 genomes]
rs73149647	1.00[AMR][1000 genomes]
rs73149655	1.00[AMR][1000 genomes]
rs73149668	1.00[AMR][1000 genomes]
rs73149677	1.00[AMR][1000 genomes]
rs73149691	1.00[AMR][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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv598960	chr5:94975592-94988482	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94977800-94982600	Weak transcription	Left Ventricle	heart
2	chr5:94978000-94982600	Weak transcription	Aorta	Aorta
3	chr5:94980000-94982600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:94980600-94982600	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:94980800-94982600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr5:94981800-94982600	Enhancers	Primary hematopoietic stem cells	blood
7	chr5:94981800-94982600	ZNF genes & repeats	Fetal Intestine Large	intestine
8	chr5:94982000-94982600	Active TSS	Muscle Satellite Cultured Cells	--
9	chr5:94982000-94982800	Active TSS	Colonic Mucosa	Colon
10	chr5:94982000-94982800	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr5:94982000-94982800	Active TSS	Hela-S3	cervix
12	chr5:94982000-94983200	Active TSS	Fetal Brain Female	brain
13	chr5:94982000-94983600	Active TSS	A549	lung
14	chr5:94982200-94982600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:94982200-94982600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr5:94982200-94982600	Active TSS	Primary B cells from cord blood	blood
17	chr5:94982200-94982600	Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr5:94982200-94982600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:94982200-94982600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:94982200-94982600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:94982200-94982600	Active TSS	Fetal Muscle Trunk	muscle
22	chr5:94982200-94982600	Enhancers	Lung	lung
23	chr5:94982200-94982600	Active TSS	NH-A	brain
24	chr5:94982200-94982800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:94982200-94982800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr5:94982200-94982800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:94982200-94982800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
28	chr5:94982200-94982800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:94982200-94982800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:94982200-94982800	Active TSS	Adipose Nuclei	Adipose
31	chr5:94982200-94982800	Active TSS	Brain Germinal Matrix	brain
32	chr5:94982200-94982800	Active TSS	Duodenum Mucosa	Duodenum
33	chr5:94982200-94982800	Active TSS	Fetal Muscle Leg	muscle
34	chr5:94982200-94982800	Active TSS	Pancreas	Pancrea
35	chr5:94982200-94982800	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr5:94982200-94982800	Active TSS	Rectal Smooth Muscle	rectum
37	chr5:94982200-94982800	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr5:94982200-94982800	Active TSS	Stomach Smooth Muscle	stomach
39	chr5:94982200-94982800	Active TSS	HSMM	muscle
40	chr5:94982200-94982800	Active TSS	Osteobl	bone
41	chr5:94982200-94983000	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr5:94982200-94983000	Active TSS	H9 Cell Line	embryonic stem cell
43	chr5:94982200-94983000	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr5:94982200-94983000	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr5:94982200-94983000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:94982200-94983000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:94982200-94983000	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr5:94982200-94983000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:94982200-94983000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:94982200-94983000	Active TSS	Brain Anterior Caudate	brain

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