Variant report

Variant	rs4944799
Chromosome Location	chr11:72506033-72506034
allele	A/G
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	ARID3A	chr11:72505507-72506117	HepG2	liver:	n/a	n/a
2	MAFK	chr11:72505705-72506054	HepG2	liver:	n/a	n/a
3	FOS	chr11:72505907-72506285	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPD	chr11:72505371-72506201	K562	blood:	n/a	n/a
5	CEBPB	chr11:72505591-72506218	K562	blood:	n/a	chr11:72506087-72506098
6	FOS	chr11:72505952-72506212	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr11:72505914-72506151	MCF10A-Er-Src	breast:	n/a	n/a
8	CEBPB	chr11:72505915-72506280	A549	lung:	n/a	chr11:72506087-72506098
9	GTF2F1	chr11:72505914-72506114	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr11:72505896-72506201	MCF10A-Er-Src	breast:	n/a	n/a
11	HCFC1	chr11:72503486-72506147	Hela-S3	cervix:	n/a	n/a
12	JUND	chr11:72505747-72506271	HepG2	liver:	n/a	chr11:72506105-72506116
13	STAT3	chr11:72505896-72506200	MCF10A-Er-Src	breast:	n/a	n/a
14	FOSL1	chr11:72505834-72506197	K562	blood:	n/a	n/a
15	CEBPB	chr11:72505875-72506186	MCF-7	breast:	n/a	chr11:72506087-72506098
16	STAT3	chr11:72505661-72506121	MCF10A-Er-Src	breast:	n/a	n/a
17	FOS	chr11:72505850-72506289	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr11:72505952-72506278	MCF10A-Er-Src	breast:	n/a	n/a
19	FOXA1	chr11:72505709-72506117	HepG2	liver:	n/a	n/a
20	STAT3	chr11:72505842-72506223	MCF10A-Er-Src	breast:	n/a	n/a
21	EP300	chr11:72505872-72506124	HepG2	liver:	n/a	n/a
22	NR2F2	chr11:72504280-72506192	K562	blood:	n/a	n/a
23	CEBPB	chr11:72505673-72506271	K562	blood:	n/a	chr11:72506087-72506098
24	CEBPB	chr11:72505920-72506188	K562	blood:	n/a	chr11:72506087-72506098
25	CREB1	chr11:72504455-72506115	HepG2	liver:	n/a	n/a
26	RCOR1	chr11:72505875-72506117	HepG2	liver:	n/a	n/a
27	FOSL2	chr11:72505866-72506198	HepG2	liver:	n/a	chr11:72506106-72506117
28	CEBPB	chr11:72505784-72506280	HepG2	liver:	n/a	chr11:72506087-72506098
29	MXI1	chr11:72505618-72506048	HepG2	liver:	n/a	n/a
30	FOSL2	chr11:72505908-72506225	HepG2	liver:	n/a	chr11:72506106-72506117
31	CEBPB	chr11:72505970-72506146	HepG2	liver:	n/a	chr11:72506087-72506098
32	CEBPB	chr11:72505712-72506290	Hela-S3	cervix:	n/a	chr11:72506087-72506098
33	CEBPB	chr11:72505565-72506283	IMR90	lung:	n/a	chr11:72506087-72506098

No.	Distal block	Cell Line	Cell type
1	chr11:72502078..72507217-chr11:72523813..72527208,9	K562	blood:
2	chr11:72432212..72438079-chr11:72503579..72507160,8	MCF-7	breast:
3	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
4	chr11:72503176..72507418-chr11:72523751..72527635,5	MCF-7	breast:
5	chr11:72505215..72506890-chr11:72507614..72509315,3	MCF-7	breast:
6	chr11:72433323..72435429-chr11:72502768..72506514,3	K562	blood:

Variant related genes	Relation type
STARD10	TF binding region
ARAP1	TF binding region
ENSG00000186635	Chromatin interaction
ENSG00000168010	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1025411	1.00[YRI][hapmap]
rs10736787	1.00[YRI][hapmap]
rs10736789	1.00[YRI][hapmap]
rs10751220	1.00[YRI][hapmap]
rs10751221	1.00[YRI][hapmap]
rs10751223	1.00[YRI][hapmap]
rs1367698	1.00[YRI][hapmap]
rs1982038	1.00[YRI][hapmap]
rs2365906	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2365907	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs2449665	1.00[MKK][hapmap]
rs3903492	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs4329714	1.00[YRI][hapmap]
rs4594026	1.00[YRI][hapmap]
rs4643105	1.00[YRI][hapmap]
rs479093	1.00[YRI][hapmap]
rs493315	1.00[MKK][hapmap]
rs4944015	1.00[YRI][hapmap]
rs4944017	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs4944811	1.00[MKK][hapmap]
rs4944812	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs4944817	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs508532	1.00[MKK][hapmap]
rs537980	1.00[YRI][hapmap]
rs560258	1.00[YRI][hapmap]
rs640283	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6592492	1.00[YRI][hapmap]
rs671766	1.00[YRI][hapmap]
rs7101936	1.00[YRI][hapmap]
rs7122570	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7129851	1.00[YRI][hapmap]
rs7936863	1.00[MKK][hapmap]
rs7937866	1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7948244	1.00[YRI][hapmap]
rs7950432	1.00[YRI][hapmap]
rs994305	1.00[YRI][hapmap]

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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats 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	73 gene(s)	inside rSNPs	diseases
3	nsv825992	chr11:72476174-72524295	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72503800-72506200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr11:72505200-72508800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:72505200-72509000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr11:72505200-72509000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:72505200-72509000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:72505200-72509400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:72505400-72506200	Enhancers	Osteobl	bone
8	chr11:72505400-72506600	Enhancers	Placenta	Placenta
9	chr11:72505400-72507200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:72505400-72509000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:72505400-72509000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:72505600-72506200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:72505600-72506600	Enhancers	Primary hematopoietic stem cells	blood
14	chr11:72505600-72506600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:72505600-72506800	Enhancers	Fetal Thymus	thymus
16	chr11:72505600-72506800	Enhancers	Thymus	Thymus
17	chr11:72505600-72509000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:72505600-72509200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr11:72505600-72509200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:72505600-72523600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr11:72505800-72506200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:72505800-72506200	Enhancers	Fetal Brain Male	brain
23	chr11:72505800-72506200	Flanking Active TSS	HepG2	liver
24	chr11:72505800-72506200	Enhancers	NHEK	skin
25	chr11:72505800-72506600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:72505800-72506600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:72505800-72506600	Enhancers	Fetal Heart	heart
28	chr11:72505800-72506600	Enhancers	K562	blood
29	chr11:72505800-72506600	Enhancers	NH-A	brain
30	chr11:72505800-72506800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:72505800-72509000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:72505800-72509000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:72505800-72509000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:72505800-72519200	Weak transcription	GM12878-XiMat	blood
35	chr11:72505800-72519400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr11:72505800-72519800	Weak transcription	Fetal Intestine Small	intestine
37	chr11:72505800-72520200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:72505800-72523000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:72505800-72523600	Weak transcription	Stomach Mucosa	stomach
40	chr11:72506000-72506200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:72506000-72506200	Enhancers	Brain Anterior Caudate	brain
42	chr11:72506000-72506200	Enhancers	Brain Substantia Nigra	brain
43	chr11:72506000-72506400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:72506000-72506600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr11:72506000-72506600	Enhancers	Dnd41	blood
46	chr11:72506000-72506800	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr11:72506000-72506800	Enhancers	Hela-S3	cervix
48	chr11:72506000-72508000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr11:72506000-72508800	Weak transcription	Adipose Nuclei	Adipose
50	chr11:72506000-72509400	Weak transcription	Primary B cells from peripheral blood	blood

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