Variant report

Variant	rs4944896
Chromosome Location	chr11:74205060-74205061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:74204009-74205068	NB4	blood:	n/a	n/a
2	POLR2A	chr11:74204002-74205089	MCF-7	breast:	n/a	n/a
3	MAX	chr11:74204908-74205151	H1-hESC	embryonic stem cell:	n/a	n/a
4	JUN	chr11:74203805-74205537	K562	blood:	n/a	n/a
5	CTCF	chr11:74204980-74205130	MCF-7	breast:	n/a	n/a
6	JUND	chr11:74203984-74205242	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:74204987-74205163	K562	blood:	n/a	chr11:74205150-74205159
8	POLR2A	chr11:74203811-74205078	PFSK-1	brain:	n/a	n/a
9	CREB1	chr11:74203947-74205072	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr11:74203880-74205590	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:74203893-74205090	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:74203986-74205211	H1-hESC	embryonic stem cell:	n/a	n/a
13	TAF1	chr11:74203954-74205192	ECC-1	luminal epithelium:	n/a	n/a
14	CTCF	chr11:74205000-74205150	AoAF	blood vessel:	n/a	n/a
15	POLR2A	chr11:74203862-74205175	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr11:74203167-74205092	Hela-S3	cervix:	n/a	n/a
17	FOS	chr11:74205025-74205720	MCF10A-Er-Src	breast:	n/a	n/a
18	SMC3	chr11:74204069-74205099	Hela-S3	cervix:	n/a	chr11:74204220-74204230
19	GATA3	chr11:74203901-74205096	A549	lung:	n/a	n/a
20	YY1	chr11:74204144-74205101	ECC-1	luminal epithelium:	n/a	chr11:74204218-74204227
21	POLR2A	chr11:74203899-74205260	ProgFib	skin:	n/a	n/a
22	MAX	chr11:74203929-74205102	MCF-7	breast:	n/a	n/a
23	HEY1	chr11:74204032-74205141	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:74203924-74205523	MCF10A-Er-Src	breast:	n/a	n/a
25	MAX	chr11:74203921-74205079	HepG2	liver:	n/a	n/a
26	CTCF	chr11:74205040-74205190	HPAF	blood vessel:	n/a	chr11:74205150-74205159
27	PML	chr11:74203866-74205066	GM12878	blood:	n/a	n/a
28	TBP	chr11:74203981-74205108	Hela-S3	cervix:	n/a	n/a
29	FOXA2	chr11:74204122-74205115	A549	lung:	n/a	n/a
30	MYC	chr11:74204088-74205614	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:74203854-74205138	MCF-7	breast:	n/a	n/a
32	MAZ	chr11:74203935-74205061	GM12878	blood:	n/a	n/a
33	FOS	chr11:74204994-74205726	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr11:74203730-74205287	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr11:74203963-74205091	HepG2	liver:	n/a	n/a
36	NFIC	chr11:74203939-74205096	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr11:74203876-74205062	HEK293	kidney:	n/a	n/a
38	MAX	chr11:74203966-74205075	MCF-7	breast:	n/a	n/a
39	RFX5	chr11:74204000-74205088	Hela-S3	cervix:	n/a	chr11:74204017-74204031
40	RAD21	chr11:74204915-74205226	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr11:74203887-74205306	Raji	blood:	n/a	n/a
42	POLR2A	chr11:74203979-74205103	H1-neurons	neurons:	n/a	n/a
43	POLR2A	chr11:74203905-74205105	HCT-116	colon:	n/a	n/a
44	POLR2A	chr11:74203944-74205089	HepG2	liver:	n/a	n/a
45	CTCF	chr11:74204920-74205070	RPTEC	kidney:	n/a	n/a
46	POLR2A	chr11:74203954-74205099	Hela-S3	cervix:	n/a	n/a
47	HDAC2	chr11:74203938-74205065	MCF-7	breast:	n/a	n/a
48	SIN3A	chr11:74203909-74205156	H1-hESC	embryonic stem cell:	n/a	n/a
49	MAX	chr11:74203947-74205305	Hela-S3	cervix:	n/a	n/a
50	TAF1	chr11:74203964-74205084	ECC-1	luminal epithelium:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74175411..74179003-chr11:74201966..74206100,6	MCF-7	breast:
2	chr11:74176347..74178704-chr11:74203526..74206053,3	K562	blood:
3	chr11:74204273..74205120-chr12:108955828..108956400,2	Hela-S3	cervix:
4	chr11:74171843..74173907-chr11:74203180..74205587,3	MCF-7	breast:
5	chr11:74175244..74178880-chr11:74203216..74205739,4	MCF-7	breast:
6	chr11:74203150..74205819-chr11:74301632..74306352,4	MCF-7	breast:
7	chr11:74202987..74205917-chr11:75525143..75527102,2	MCF-7	breast:
8	chr11:74196733..74198968-chr11:74202003..74205722,4	K562	blood:
9	chr11:74204313..74206449-chr16:3506549..3509156,2	MCF-7	breast:
10	chr11:74185351..74193647-chr11:74202565..74206845,12	MCF-7	breast:
11	chr11:74204304..74205190-chr11:78285459..78286026,2	Hela-S3	cervix:
12	chr11:74203316..74206013-chr11:74301160..74305311,5	MCF-7	breast:
13	chr11:74196620..74198242-chr11:74204138..74205722,2	K562	blood:

No data

Variant related genes	Relation type
LIPT2	TF binding region
ENSG00000255507	Chromatin interaction
ENSG00000254974	Chromatin interaction
ENSG00000175538	Chromatin interaction
ENSG00000077514	Chromatin interaction
ENSG00000198382	Chromatin interaction
ENSG00000136003	Chromatin interaction
ENSG00000137513	Chromatin interaction
ENSG00000255444	Chromatin interaction
ENSG00000262621	Chromatin interaction
ENSG00000122390	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10751236	1.00[EUR][1000 genomes]
rs12099424	1.00[EUR][1000 genomes]
rs1290234	1.00[EUR][1000 genomes]
rs2507826	1.00[EUR][1000 genomes]
rs4044286	1.00[EUR][1000 genomes]
rs4944895	1.00[EUR][1000 genomes]
rs56060122	1.00[EUR][1000 genomes]
rs633335	1.00[EUR][1000 genomes]
rs643738	1.00[EUR][1000 genomes]
rs647655	1.00[EUR][1000 genomes]
rs649912	1.00[EUR][1000 genomes]
rs674149	1.00[EUR][1000 genomes]
rs685302	1.00[EUR][1000 genomes]
rs694593	1.00[EUR][1000 genomes]
rs7109001	1.00[AMR][1000 genomes]
rs7933765	1.00[EUR][1000 genomes]
rs7947618	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv832209	chr11:74155883-74329119	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv897913	chr11:74171997-74216705	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv555444	chr11:74200739-74221170	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4944896	ENSG00000198048	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74203200-74205800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr11:74203400-74205200	Active TSS	Brain Germinal Matrix	brain
3	chr11:74203400-74205400	Active TSS	H9 Cell Line	embryonic stem cell
4	chr11:74203400-74205600	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr11:74203600-74205200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr11:74203600-74205400	Active TSS	HSMMtube	muscle
7	chr11:74203600-74205600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr11:74203800-74205200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr11:74203800-74205200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:74203800-74205200	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:74203800-74205200	Active TSS	Colonic Mucosa	Colon
12	chr11:74203800-74205200	Active TSS	Fetal Brain Female	brain
13	chr11:74203800-74205200	Active TSS	Fetal Intestine Small	intestine
14	chr11:74203800-74205200	Active TSS	Fetal Muscle Trunk	muscle
15	chr11:74203800-74205200	Active TSS	Psoas Muscle	Psoas
16	chr11:74203800-74205200	Active TSS	Right Ventricle	heart
17	chr11:74204000-74205200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:74204000-74205200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:74204000-74205200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:74204000-74205200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr11:74204000-74205200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:74204000-74205200	Active TSS	Aorta	Aorta
23	chr11:74204000-74205200	Active TSS	Brain Cingulate Gyrus	brain
24	chr11:74204000-74205200	Active TSS	Esophagus	oesophagus
25	chr11:74204000-74205200	Active TSS	Fetal Intestine Large	intestine
26	chr11:74204000-74205200	Active TSS	Gastric	stomach
27	chr11:74204000-74205200	Active TSS	Left Ventricle	heart
28	chr11:74204000-74205200	Active TSS	Lung	lung
29	chr11:74204000-74205200	Active TSS	Ovary	ovary
30	chr11:74204000-74205200	Active TSS	Pancreas	Pancrea
31	chr11:74204000-74205200	Active TSS	Stomach Mucosa	stomach
32	chr11:74204000-74205200	Active TSS	HepG2	liver
33	chr11:74204000-74205400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr11:74204000-74205400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:74204000-74205400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:74204000-74205400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:74204000-74205400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:74204000-74205400	Active TSS	Rectal Smooth Muscle	rectum
39	chr11:74204000-74205600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr11:74204200-74205200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:74204200-74205200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:74204200-74205200	Active TSS	Placenta Amnion	Placenta Amnion
43	chr11:74204400-74205200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr11:74204400-74205200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:74204400-74205600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:74204600-74205400	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr11:74204600-74205400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr11:74204800-74205200	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr11:74204800-74205200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr11:74204800-74205200	Active TSS	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links