Variant report

Variant	rs5030493
Chromosome Location	chr11:36531097-36531098
allele	A/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	MAX	chr11:36531087-36532108	NB4	blood:	n/a	n/a
2	POLR2A	chr11:36530309-36532253	GM12891	blood:	n/a	n/a
3	BRCA1	chr11:36530478-36531228	Hela-S3	cervix:	n/a	n/a
4	MYC	chr11:36530492-36532533	K562	blood:	n/a	n/a
5	IRF1	chr11:36529922-36531191	K562	blood:	n/a	chr11:36530227-36530238 chr11:36530224-36530238 chr11:36530224-36530237 chr11:36530223-36530237 chr11:36530224-36530237 chr11:36530226-36530236 chr11:36530114-36530123
6	POLR2A	chr11:36530773-36532243	K562	blood:	n/a	n/a
7	MXI1	chr11:36530995-36532101	GM12878	blood:	n/a	n/a
8	RFX5	chr11:36531053-36532064	Hela-S3	cervix:	n/a	n/a
9	MEF2A	chr11:36530839-36531209	K562	blood:	n/a	chr11:36531027-36531042 chr11:36531030-36531041 chr11:36531029-36531040 chr11:36531028-36531042 chr11:36531023-36531044 chr11:36531027-36531043
10	JUN	chr11:36530721-36532607	K562	blood:	n/a	n/a
11	FOXM1	chr11:36530833-36532115	GM12878	blood:	n/a	n/a
12	MTA3	chr11:36530584-36532279	GM12878	blood:	n/a	n/a
13	SMARCB1	chr11:36530929-36532190	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr11:36530198-36532469	IMR90	lung:	n/a	n/a
15	RCOR1	chr11:36530900-36532228	K562	blood:	n/a	n/a
16	MEF2A	chr11:36530810-36531180	GM12878	blood:	n/a	chr11:36531027-36531042 chr11:36531030-36531041 chr11:36531029-36531040 chr11:36531028-36531042 chr11:36531023-36531044 chr11:36531027-36531043
17	TBP	chr11:36530813-36531154	K562	blood:	n/a	n/a
18	MEF2A	chr11:36530800-36531274	K562	blood:	n/a	chr11:36531027-36531042 chr11:36531030-36531041 chr11:36531029-36531040 chr11:36531028-36531042 chr11:36531023-36531044 chr11:36531027-36531043
19	UBTF	chr11:36530760-36532094	K562	blood:	n/a	n/a
20	JUND	chr11:36530825-36532392	K562	blood:	n/a	n/a
21	CTCF	chr11:36530808-36532476	A549	lung:	n/a	chr11:36531563-36531581 chr11:36531886-36531904 chr11:36531888-36531901 chr11:36531881-36531902 chr11:36531566-36531579 chr11:36531569-36531582 chr11:36531566-36531584 chr11:36531892-36531901 chr11:36531887-36531903 chr11:36531567-36531583
22	ZNF384	chr11:36530781-36531402	GM12878	blood:	n/a	n/a
23	GTF2F1	chr11:36530939-36531326	Hela-S3	cervix:	n/a	n/a
24	MAX	chr11:36530880-36532276	Hela-S3	cervix:	n/a	n/a
25	REST	chr11:36531018-36531206	K562	blood:	n/a	n/a
26	ELF1	chr11:36531092-36532173	GM12878	blood:	n/a	n/a
27	MAX	chr11:36531093-36532112	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr11:36530266-36532314	PBDE	blood:	n/a	n/a
29	POLR2A	chr11:36531054-36532112	GM12878	blood:	n/a	n/a
30	SIN3A	chr11:36530791-36532225	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr11:36530659-36532110	IMR90	lung:	n/a	n/a
32	E2F4	chr11:36531037-36531224	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:36530876-36532440	K562	blood:	n/a	n/a
34	MAZ	chr11:36530253-36532203	K562	blood:	n/a	n/a
35	MAX	chr11:36531082-36532066	K562	blood:	n/a	n/a
36	POLR2A	chr11:36530512-36532299	K562	blood:	n/a	n/a
37	POLR2A	chr11:36531035-36532130	H1-neurons	neurons:	n/a	n/a
38	MAZ	chr11:36530826-36532091	GM12878	blood:	n/a	n/a
39	CTCF	chr11:36531080-36531230	GM12866	blood:	n/a	n/a
40	HCFC1	chr11:36530167-36532549	Hela-S3	cervix:	n/a	n/a
41	HMGN3	chr11:36530983-36532211	K562	blood:	n/a	chr11:36531146-36531153
42	MXI1	chr11:36530265-36532522	IMR90	lung:	n/a	n/a
43	BHLHE40	chr11:36531036-36531161	K562	blood:	n/a	n/a
44	MAFK	chr11:36530814-36531100	K562	blood:	n/a	n/a
45	POLR2A	chr11:36530512-36532165	Hela-S3	cervix:	n/a	n/a
46	ZNF384	chr11:36530568-36532096	K562	blood:	n/a	n/a
47	WRNIP1	chr11:36530837-36531373	GM12878	blood:	n/a	n/a
48	CTCF	chr11:36531080-36531230	NHLF	lung:	n/a	n/a
49	POLR2A	chr11:36530952-36532184	GM19193	blood:	n/a	n/a
50	RELA	chr11:36530437-36531211	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:36530329..36533204-chr11:36533479..36537074,4	K562	blood:
2	chr11:36530595..36532345-chr11:43379356..43380877,2	K562	blood:
3	chr11:36530300..36533244-chr11:36535692..36537195,2	MCF-7	breast:
4	chr11:36530765..36533204-chr11:36534006..36537074,3	K562	blood:
5	chr11:36309810..36312786-chr11:36530434..36531939,2	MCF-7	breast:

Variant related genes	Relation type
RAG1	TF binding region
ENSG00000254907	Chromatin interaction
ENSG00000052841	Chromatin interaction
ENSG00000110442	Chromatin interaction
ENSG00000166349	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16928973	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030490	0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5030495	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030499	0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5030504	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5030507	0.87[EUR][1000 genomes]
rs554949	0.85[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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36529600-36532400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:36529600-36532400	Active TSS	Psoas Muscle	Psoas
3	chr11:36529600-36532600	Active TSS	Right Ventricle	heart
4	chr11:36529800-36531200	Active TSS	Right Atrium	heart
5	chr11:36529800-36532200	Active TSS	GM12878-XiMat	blood
6	chr11:36529800-36532400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:36529800-36532400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:36529800-36532600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:36529800-36532600	Active TSS	Fetal Intestine Large	intestine
10	chr11:36529800-36532600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr11:36530000-36531200	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr11:36530000-36531200	Flanking Active TSS	Fetal Brain Female	brain
13	chr11:36530000-36532400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:36530000-36532400	Active TSS	Aorta	Aorta
15	chr11:36530000-36532400	Active TSS	Fetal Intestine Small	intestine
16	chr11:36530000-36532400	Active TSS	Left Ventricle	heart
17	chr11:36530000-36532400	Active TSS	Stomach Smooth Muscle	stomach
18	chr11:36530000-36532400	Active TSS	HSMM	muscle
19	chr11:36530000-36532400	Active TSS	NHDF-Ad	bronchial
20	chr11:36530000-36532600	Active TSS	H1 Cell Line	embryonic stem cell
21	chr11:36530000-36532600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr11:36530000-36532800	Active TSS	K562	blood
23	chr11:36530200-36531200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:36530200-36532000	Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr11:36530200-36532000	Active TSS	HSMMtube	muscle
26	chr11:36530200-36532400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:36530200-36532400	Active TSS	Ovary	ovary
28	chr11:36530200-36532400	Active TSS	HMEC	breast
29	chr11:36530200-36532400	Active TSS	NHLF	lung
30	chr11:36530200-36532600	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr11:36530200-36532600	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr11:36530200-36532600	Active TSS	Fetal Muscle Trunk	muscle
33	chr11:36530200-36532800	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:36530400-36531200	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr11:36530400-36531200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:36530400-36531200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr11:36530400-36531200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:36530400-36531400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr11:36530400-36531400	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr11:36530400-36531400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr11:36530400-36532200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr11:36530400-36532200	Active TSS	Gastric	stomach
43	chr11:36530400-36532200	Active TSS	Lung	lung
44	chr11:36530400-36532200	Active TSS	NH-A	brain
45	chr11:36530400-36532400	Active TSS	H9 Cell Line	embryonic stem cell
46	chr11:36530400-36532400	Active TSS	Muscle Satellite Cultured Cells	--
47	chr11:36530400-36532600	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr11:36530400-36532600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr11:36530400-36532600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:36530400-36532600	Active TSS	Brain Angular Gyrus	brain

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