Variant report

Variant	rs139445248
Chromosome Location	chr11:104916175-104916176
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	STAT3	chr11:104915935-104916268	MCF10A-Er-Src	breast:	n/a	chr11:104916057-104916068
2	POU2F2	chr11:104915867-104916356	GM12891	blood:	n/a	chr11:104916125-104916146 chr11:104916126-104916139 chr11:104916129-104916139 chr11:104916126-104916139 chr11:104916125-104916147 chr11:104916126-104916139
3	POLR2A	chr11:104915793-104916186	GM12891	blood:	n/a	n/a
4	EP300	chr11:104915951-104916258	Hela-S3	cervix:	n/a	n/a
5	RCOR1	chr11:104915636-104916376	Hela-S3	cervix:	n/a	n/a
6	MYC	chr11:104915927-104916324	MCF10A-Er-Src	breast:	n/a	n/a
7	YY1	chr11:104915853-104916181	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:104915706-104916257	GM12878	blood:	n/a	n/a
9	STAT3	chr11:104916056-104916290	MCF10A-Er-Src	breast:	n/a	chr11:104916057-104916068
10	POLR2A	chr11:104915764-104916208	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:104915821-104916199	Hela-S3	cervix:	n/a	n/a
12	BATF	chr11:104915949-104916196	GM12878	blood:	n/a	n/a
13	FOS	chr11:104916034-104916245	MCF10A-Er-Src	breast:	n/a	n/a
14	POU2F2	chr11:104915864-104916303	GM12891	blood:	n/a	chr11:104916125-104916146 chr11:104916126-104916139 chr11:104916129-104916139 chr11:104916126-104916139 chr11:104916125-104916147 chr11:104916126-104916139
15	MYC	chr11:104915938-104916269	MCF10A-Er-Src	breast:	n/a	n/a
16	TBP	chr11:104915791-104916347	Hela-S3	cervix:	n/a	n/a
17	IRF4	chr11:104915923-104916270	GM12878	blood:	n/a	chr11:104916055-104916069
18	STAT3	chr11:104915941-104916269	MCF10A-Er-Src	breast:	n/a	chr11:104916057-104916068
19	POLR2A	chr11:104915687-104916248	GM12892	blood:	n/a	n/a
20	TBP	chr11:104915905-104916226	GM12878	blood:	n/a	n/a
21	TAF1	chr11:104915861-104916210	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:104915792-104916183	GM12892	blood:	n/a	n/a
23	POU2F2	chr11:104915880-104916246	GM12878	blood:	n/a	chr11:104916125-104916146 chr11:104916126-104916139 chr11:104916129-104916139 chr11:104916126-104916139 chr11:104916125-104916147 chr11:104916126-104916139
24	SMC3	chr11:104915912-104916333	Hela-S3	cervix:	n/a	n/a
25	FOS	chr11:104915927-104916246	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr11:104915943-104916249	HUVEC	blood vessel:	n/a	n/a
27	YY1	chr11:104915884-104916192	GM12878	blood:	n/a	n/a
28	PRDM1	chr11:104915897-104916227	Hela-S3	cervix:	n/a	chr11:104916056-104916070
29	STAT3	chr11:104915942-104916262	MCF10A-Er-Src	breast:	n/a	chr11:104916057-104916068
30	E2F4	chr11:104915974-104916280	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr11:104915912-104916234	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:104915646-104916222	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr11:104915743-104916227	GM12892	blood:	n/a	n/a
34	POU2F2	chr11:104915810-104916286	GM12878	blood:	n/a	chr11:104916125-104916146 chr11:104916126-104916139 chr11:104916129-104916139 chr11:104916126-104916139 chr11:104916125-104916147 chr11:104916126-104916139
35	RAD21	chr11:104915920-104916223	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr11:104914457-104916305	Hela-S3	cervix:	n/a	chr11:104915784-104915797
37	CEBPB	chr11:104915430-104916328	IMR90	lung:	n/a	chr11:104915784-104915797
38	USF2	chr11:104916027-104916214	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr11:104915825-104916334	HUVEC	blood vessel:	n/a	n/a
40	MXI1	chr11:104915914-104916254	GM12878	blood:	n/a	n/a
41	EBF1	chr11:104915907-104916477	GM12878	blood:	n/a	n/a
42	TAF1	chr11:104915801-104916192	GM12878	blood:	n/a	n/a
43	FOS	chr11:104915938-104916278	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr11:104915766-104916641	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr11:104915864-104916242	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:104915782-104916329	Hela-S3	cervix:	n/a	n/a
47	RCOR1	chr11:104915798-104916298	GM12878	blood:	n/a	n/a
48	FOS	chr11:104915931-104916250	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr11:104915810-104916256	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
CARD16	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv468862	chr11:104774014-105243371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv556218	chr11:104774014-105243371	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	esv3385159	chr11:104786549-105051555	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv1044970	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv541160	chr11:104809246-105225032	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv468863	chr11:104875261-104918517	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
9	nsv556219	chr11:104875261-104918517	Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
10	esv2757475	chr11:104895876-104979717	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv2759863	chr11:104895876-104979717	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv517089	chr11:104915563-104930676	Weak transcription Flanking Active TSS Enhancers Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104912600-104917800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:104912600-104920800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:104913000-104916200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:104913600-104916200	Active TSS	Hela-S3	cervix
5	chr11:104913600-104916400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:104913600-104916600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:104913800-104916200	Active TSS	Primary T cells fromperipheralblood	blood
8	chr11:104914000-104916200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr11:104914000-104916600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr11:104914200-104916200	Active TSS	Colonic Mucosa	Colon
11	chr11:104914200-104916400	Active TSS	Ovary	ovary
12	chr11:104914200-104916400	Flanking Active TSS	HUVEC	blood vessel
13	chr11:104914200-104916600	Active TSS	Rectal Smooth Muscle	rectum
14	chr11:104914400-104916200	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr11:104914400-104916400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr11:104914400-104916400	Active TSS	Brain Hippocampus Middle	brain
17	chr11:104914400-104916400	Active TSS	Fetal Muscle Leg	muscle
18	chr11:104914400-104916400	Active TSS	Stomach Smooth Muscle	stomach
19	chr11:104914600-104916200	Active TSS	Primary monocytes fromperipheralblood	blood
20	chr11:104914600-104916200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:104914600-104916200	Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr11:104914600-104916200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:104914600-104916200	Active TSS	Fetal Lung	lung
24	chr11:104914600-104916200	Active TSS	Left Ventricle	heart
25	chr11:104914600-104916200	Active TSS	Thymus	Thymus
26	chr11:104914600-104916200	Active TSS	Monocytes-CD14+_RO01746	blood
27	chr11:104914600-104916200	Active TSS	NHLF	lung
28	chr11:104914600-104916400	Active TSS	Right Atrium	heart
29	chr11:104914600-104916600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:104914600-104918000	Weak transcription	Gastric	stomach
31	chr11:104914600-104918000	Weak transcription	Spleen	Spleen
32	chr11:104914800-104916200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr11:104914800-104916200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:104914800-104916200	Active TSS	Duodenum Mucosa	Duodenum
35	chr11:104914800-104916200	Active TSS	Fetal Intestine Small	intestine
36	chr11:104915000-104916200	Active TSS	Primary T cells from cord blood	blood
37	chr11:104915000-104916200	Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr11:104915000-104916200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr11:104915000-104916200	Active TSS	Liver	Liver
40	chr11:104915000-104916200	Active TSS	Brain Substantia Nigra	brain
41	chr11:104915000-104916200	Active TSS	Small Intestine	intestine
42	chr11:104915200-104916200	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr11:104915200-104916400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:104915600-104916200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
45	chr11:104915600-104916200	Active TSS	Fetal Intestine Large	intestine
46	chr11:104915600-104916200	Active TSS	Fetal Muscle Trunk	muscle
47	chr11:104915600-104916200	Flanking Active TSS	Fetal Stomach	stomach
48	chr11:104915600-104916200	Active TSS	Fetal Thymus	thymus
49	chr11:104915600-104916200	Active TSS	Stomach Mucosa	stomach
50	chr11:104915600-104916200	Active TSS	Dnd41	blood

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