Variant report

Variant	rs2508191
Chromosome Location	chr11:63752982-63752983
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	RUNX3	chr11:63752920-63754305	GM12878	blood:	n/a	n/a
2	SPI1	chr11:63752913-63753721	HL-60	blood:	n/a	chr11:63753269-63753282
3	CEBPB	chr11:63752926-63753104	Hela-S3	cervix:	n/a	n/a
4	HCFC1	chr11:63752862-63754909	Hela-S3	cervix:	n/a	n/a
5	SPI1	chr11:63752918-63753160	GM12891	blood:	n/a	n/a
6	ELF1	chr11:63752957-63754312	GM12878	blood:	n/a	chr11:63754251-63754263
7	POLR2A	chr11:63752980-63755401	SK-N-MC	brain:	n/a	n/a
8	CEBPB	chr11:63752872-63753631	GM12878	blood:	n/a	n/a
9	TCF12	chr11:63752972-63754784	A549	lung:	n/a	chr11:63754038-63754045 chr11:63754039-63754049 chr11:63754036-63754046
10	MXI1	chr11:63752859-63754554	IMR90	lung:	n/a	n/a
11	MTA3	chr11:63752866-63754581	GM12878	blood:	n/a	n/a
12	MXI1	chr11:63752828-63755247	SK-N-SH	brain:	n/a	n/a
13	PRDM1	chr11:63752931-63753196	Hela-S3	cervix:	n/a	chr11:63753044-63753059
14	CEBPB	chr11:63752906-63753156	IMR90	lung:	n/a	n/a
15	SPI1	chr11:63752949-63753158	K562	blood:	n/a	n/a
16	MTA3	chr11:63752899-63754217	GM12878	blood:	n/a	n/a
17	CEBPB	chr11:63752891-63753176	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63752288..63756029-chr11:63763681..63768717,11	MCF-7	breast:
2	chr11:63752274..63755193-chr11:64072992..64074621,2	MCF-7	breast:
3	chr11:63605255..63608067-chr11:63752037..63753673,2	MCF-7	breast:
4	chr11:63739151..63744415-chr11:63752010..63756596,9	MCF-7	breast:
5	chr11:63752327..63755463-chr11:63951684..63954508,4	MCF-7	breast:
6	chr11:63682847..63685544-chr11:63752668..63755278,2	MCF-7	breast:
7	chr11:63752447..63754904-chr11:63931048..63933995,2	MCF-7	breast:
8	chr11:63752685..63755031-chr11:63931416..63935122,4	MCF-7	breast:
9	chr11:63752092..63755018-chr11:64008321..64010556,3	K562	blood:

Variant related genes	Relation type
OTUB1	TF binding region
ENSG00000072518	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000133315	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000176340	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000256100	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11231674	1.00[CHB][hapmap]
rs1188017	1.00[CHB][hapmap]
rs12361815	1.00[CHB][hapmap]
rs41509648	1.00[CHB][hapmap]
rs542966	1.00[CHB][hapmap]
rs7122132	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv897640	chr11:63744152-63835611	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
12	nsv897641	chr11:63744152-63844683	Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv897642	chr11:63744152-63866959	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
14	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63743000-63753000	Weak transcription	Aorta	Aorta
2	chr11:63744000-63753000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr11:63744000-63753000	Weak transcription	Fetal Kidney	kidney
4	chr11:63744000-63753000	Weak transcription	Small Intestine	intestine
5	chr11:63744200-63753000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:63744200-63753000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr11:63744400-63753000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:63744400-63753000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:63744400-63753000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr11:63744400-63753000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr11:63744400-63753000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr11:63744400-63753000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:63744400-63753000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr11:63744400-63753000	Weak transcription	Brain Substantia Nigra	brain
15	chr11:63744400-63753000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:63744400-63753000	Weak transcription	Fetal Brain Male	brain
17	chr11:63744400-63753000	Weak transcription	Fetal Intestine Large	intestine
18	chr11:63744400-63753000	Weak transcription	Fetal Lung	lung
19	chr11:63744400-63753000	Weak transcription	Psoas Muscle	Psoas
20	chr11:63744400-63753000	Weak transcription	HSMMtube	muscle
21	chr11:63744400-63753000	Weak transcription	HUVEC	blood vessel
22	chr11:63744400-63753000	Weak transcription	Osteobl	bone
23	chr11:63744400-63753400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:63744600-63753000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:63745000-63753000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:63745200-63753000	Weak transcription	K562	blood
27	chr11:63746200-63753200	Weak transcription	Ovary	ovary
28	chr11:63746400-63753000	Weak transcription	Brain Germinal Matrix	brain
29	chr11:63746600-63753000	Weak transcription	Colonic Mucosa	Colon
30	chr11:63746800-63753000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:63746800-63753000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:63746800-63753000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:63746800-63753000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:63746800-63753000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:63746800-63753000	Weak transcription	Liver	Liver
36	chr11:63746800-63753000	Weak transcription	Brain Anterior Caudate	brain
37	chr11:63746800-63753000	Weak transcription	Gastric	stomach
38	chr11:63746800-63753000	Weak transcription	Lung	lung
39	chr11:63746800-63753000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:63746800-63753000	Weak transcription	Right Atrium	heart
41	chr11:63746800-63753000	Weak transcription	Stomach Mucosa	stomach
42	chr11:63746800-63753000	Weak transcription	Hela-S3	cervix
43	chr11:63747000-63753000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:63747000-63753000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:63747000-63753000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr11:63747000-63753000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr11:63747000-63753000	Weak transcription	Adipose Nuclei	Adipose
48	chr11:63747000-63753000	Weak transcription	Brain Angular Gyrus	brain
49	chr11:63747000-63753000	Weak transcription	Colon Smooth Muscle	Colon
50	chr11:63747000-63753000	Weak transcription	Duodenum Mucosa	Duodenum

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