Variant report

Variant	rs7101557
Chromosome Location	chr11:104910752-104910753
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	CTCF	chr11:104910741-104910756	GM20000	blood:	n/a	n/a
2	POLR2A	chr11:104908077-104910884	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
CASP1	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11226596	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11226599	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11226600	0.90[AMR][1000 genomes]
rs12291685	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7108284	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7108581	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7122518	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7127485	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7925706	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7933945	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv1041081	chr11:104797775-104912458	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats 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	5 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	esv3419177	chr11:104905032-104915298	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104904400-104914200	Weak transcription	Spleen	Spleen
2	chr11:104905800-104911400	Weak transcription	Small Intestine	intestine
3	chr11:104906000-104914200	Weak transcription	Right Ventricle	heart
4	chr11:104906000-104914600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:104906200-104913600	Weak transcription	NHLF	lung
6	chr11:104906200-104914200	Weak transcription	Ovary	ovary
7	chr11:104906200-104914400	Weak transcription	Left Ventricle	heart
8	chr11:104906400-104911600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:104906400-104914200	Weak transcription	Stomach Mucosa	stomach
10	chr11:104906400-104914200	Weak transcription	GM12878-XiMat	blood
11	chr11:104906600-104911400	Weak transcription	Placenta	Placenta
12	chr11:104906600-104911400	Weak transcription	HepG2	liver
13	chr11:104906600-104911600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:104906600-104911600	Weak transcription	Fetal Lung	lung
15	chr11:104906600-104912200	Weak transcription	Hela-S3	cervix
16	chr11:104906600-104914200	Weak transcription	Colonic Mucosa	Colon
17	chr11:104906600-104915600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:104906800-104910800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:104906800-104911200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:104906800-104911400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:104906800-104911400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:104906800-104911600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr11:104906800-104913800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:104907000-104912000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:104907200-104911400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr11:104907200-104913600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:104908000-104910800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:104908400-104912600	Strong transcription	Primary T cells from cord blood	blood
29	chr11:104908600-104912200	Strong transcription	Primary B cells from cord blood	blood
30	chr11:104908600-104912400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr11:104908800-104911000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:104908800-104911200	Weak transcription	Adipose Nuclei	Adipose
33	chr11:104908800-104911400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:104908800-104911600	Weak transcription	Fetal Intestine Small	intestine
35	chr11:104908800-104912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:104908800-104914200	Weak transcription	Lung	lung
37	chr11:104909200-104912200	Strong transcription	Primary B cells from peripheral blood	blood
38	chr11:104909400-104911400	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr11:104909400-104911400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr11:104909400-104912400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:104910000-104911800	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr11:104910000-104912400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr11:104910000-104912400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:104910200-104911400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr11:104910200-104911600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:104910200-104912200	Strong transcription	Primary hematopoietic stem cells	blood
47	chr11:104910200-104912200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr11:104910200-104912600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:104910200-104915800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr11:104910400-104911600	Strong transcription	Primary T helper cells fromperipheralblood	blood

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