Variant report

Variant	rs12272373
Chromosome Location	chr11:35163974-35163975
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	POLR2A	chr11:35163856-35164621	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr11:35163904-35164636	Hela-S3	cervix:	n/a	n/a
3	MTA3	chr11:35163872-35164455	GM12878	blood:	n/a	n/a
4	SMC3	chr11:35163966-35164236	K562	blood:	n/a	chr11:35164101-35164115 chr11:35164101-35164111
5	RUNX3	chr11:35163949-35164321	GM12878	blood:	n/a	n/a
6	MAX	chr11:35163920-35164581	SK-N-SH	brain:	n/a	chr11:35164397-35164406
7	FOSL1	chr11:35163919-35164711	HCT-116	colon:	n/a	chr11:35164395-35164407 chr11:35164398-35164409 chr11:35164396-35164406 chr11:35164397-35164405
8	POLR2A	chr11:35163875-35166323	GM12878	blood:	n/a	n/a
9	CEBPB	chr11:35163971-35164476	IMR90	lung:	n/a	n/a
10	MTA3	chr11:35163888-35164440	GM12878	blood:	n/a	n/a
11	MXI1	chr11:35159789-35167151	IMR90	lung:	n/a	n/a
12	POLR2A	chr11:35163871-35166317	GM12892	blood:	n/a	n/a
13	POLR2A	chr11:35163896-35164620	GM12891	blood:	n/a	n/a
14	POLR2A	chr11:35158320-35197578	PANC-1	pancreas:	n/a	n/a
15	TEAD4	chr11:35163940-35164742	SK-N-SH	brain:	n/a	n/a
16	POLR2A	chr11:35163872-35164645	GM12891	blood:	n/a	n/a
17	CTCF	chr11:35163960-35164230	WI-38	lung:	n/a	chr11:35164102-35164112 chr11:35164094-35164115 chr11:35164099-35164117 chr11:35164105-35164114 chr11:35164101-35164114
18	EBF1	chr11:35163896-35164763	GM12878	blood:	n/a	n/a
19	EP300	chr11:35163917-35164651	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr11:35159892-35169475	U87	brain:	n/a	n/a
21	RAD21	chr11:35163913-35164295	SK-N-SH_RA	brain:	n/a	chr11:35164101-35164111 chr11:35164099-35164111 chr11:35164097-35164116 chr11:35164101-35164115
22	POLR2A	chr11:35159882-35169364	GM12891	blood:	n/a	n/a
23	POLR2A	chr11:35159950-35178999	U87	brain:	n/a	n/a
24	POLR2A	chr11:35163857-35164640	GM12891	blood:	n/a	n/a
25	TCF12	chr11:35163971-35164635	SK-N-SH	brain:	n/a	n/a
26	RAD21	chr11:35163900-35164412	HCT-116	colon:	n/a	chr11:35164101-35164111 chr11:35164099-35164111 chr11:35164097-35164116 chr11:35164101-35164115
27	POLR2A	chr11:35163860-35169442	GM12892	blood:	n/a	n/a
28	POLR2A	chr11:35159686-35169512	GM12892	blood:	n/a	n/a
29	RAD21	chr11:35163949-35164255	GM12878	blood:	n/a	chr11:35164101-35164111 chr11:35164099-35164111 chr11:35164097-35164116 chr11:35164101-35164115
30	POLR2A	chr11:35163835-35164523	MCF10A-Er-Src	breast:	n/a	n/a
31	TEAD4	chr11:35163954-35164614	SK-N-SH	brain:	n/a	n/a
32	PBX3	chr11:35163949-35164634	SK-N-SH	brain:	n/a	n/a
33	REST	chr11:35163963-35164576	SK-N-SH	brain:	n/a	n/a
34	RAD21	chr11:35163965-35164290	HepG2	liver:	n/a	chr11:35164101-35164111 chr11:35164099-35164111 chr11:35164097-35164116 chr11:35164101-35164115
35	CTCF	chr11:35163926-35164289	K562	blood:	n/a	chr11:35164102-35164112 chr11:35164094-35164115 chr11:35164099-35164117 chr11:35164105-35164114 chr11:35164101-35164114
36	RCOR1	chr11:35163923-35164858	IMR90	lung:	n/a	n/a
37	POLR2A	chr11:35163952-35169268	GM12878	blood:	n/a	n/a
38	SMC3	chr11:35163932-35164215	HepG2	liver:	n/a	chr11:35164101-35164115 chr11:35164101-35164111
39	CTCF	chr11:35163960-35164110	GM12864	blood:	n/a	n/a
40	POLR2A	chr11:35159736-35164647	GM12892	blood:	n/a	n/a
41	POLR2A	chr11:35163878-35164628	HCT-116	colon:	n/a	n/a
42	GATA3	chr11:35163888-35164683	SK-N-SH	brain:	n/a	n/a
43	SMC3	chr11:35163960-35164271	GM12878	blood:	n/a	chr11:35164101-35164115 chr11:35164101-35164111
44	POLR2A	chr11:35163862-35169470	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr11:35163882-35164672	Hela-S3	cervix:	n/a	n/a
46	TCF12	chr11:35163878-35164758	SK-N-SH	brain:	n/a	n/a
47	SIN3AK20	chr11:35163857-35164538	PANC-1	pancreas:	n/a	n/a
48	RAD21	chr11:35163942-35164228	GM12878	blood:	n/a	chr11:35164101-35164111 chr11:35164099-35164111 chr11:35164097-35164116 chr11:35164101-35164115
49	POLR2A	chr11:35163885-35169421	U87	brain:	n/a	n/a
50	RAD21	chr11:35163970-35164223	SK-N-SH_RA	brain:	n/a	chr11:35164101-35164111 chr11:35164099-35164111 chr11:35164097-35164116 chr11:35164101-35164115

No.	Distal block	Cell Line	Cell type
1	chr11:35163163..35167316-chr11:35171190..35174236,4	K562	blood:
2	chr11:35026967..35028548-chr11:35162664..35165084,2	MCF-7	breast:
3	chr11:35161963..35164830-chr11:35383993..35385550,2	MCF-7	breast:
4	chr11:34947697..34948269-chr11:35163627..35164578,3	K562	blood:

Variant related genes	Relation type
ENSG00000255521	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2553808	1.00[YRI][hapmap]
rs60194863	1.00[AMR][1000 genomes]
rs7111018	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv541000	chr11:35053717-35185471	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
9	nsv508623	chr11:35094933-35203363	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv541002	chr11:35101282-35224624	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35159800-35165000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:35160200-35165000	Active TSS	Rectal Smooth Muscle	rectum
3	chr11:35160200-35170200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:35160400-35164000	Active TSS	Primary T helper naive cells from peripheral blood	blood
5	chr11:35160400-35164000	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr11:35160600-35164200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:35161200-35164200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr11:35161200-35164600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:35161200-35165200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr11:35161200-35197400	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
11	chr11:35161400-35164000	Transcr. at gene 5' and 3'	NHEK	skin
12	chr11:35161400-35166000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:35161400-35166800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr11:35161600-35167400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr11:35161800-35164000	Active TSS	Adipose Nuclei	Adipose
16	chr11:35161800-35164200	Active TSS	Brain Hippocampus Middle	brain
17	chr11:35161800-35164200	Active TSS	Right Ventricle	heart
18	chr11:35161800-35165000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:35162000-35164400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:35162000-35165200	Weak transcription	Gastric	stomach
21	chr11:35162000-35169000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:35162000-35169000	Enhancers	Stomach Mucosa	stomach
23	chr11:35162400-35164000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr11:35162400-35164400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr11:35162600-35164400	Flanking Active TSS	Osteobl	bone
26	chr11:35162600-35164600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:35162600-35164800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:35162600-35165400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:35162600-35165800	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
30	chr11:35162800-35165400	Weak transcription	Brain Anterior Caudate	brain
31	chr11:35163000-35164000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:35163000-35164000	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr11:35163000-35164000	Weak transcription	Spleen	Spleen
34	chr11:35163000-35164800	Enhancers	Fetal Lung	lung
35	chr11:35163000-35165800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr11:35163000-35167400	Transcr. at gene 5' and 3'	NHLF	lung
37	chr11:35163000-35168000	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:35163200-35164200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr11:35163200-35165600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:35163200-35168200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
41	chr11:35163200-35169800	Enhancers	Small Intestine	intestine
42	chr11:35163400-35164000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:35163400-35164000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr11:35163400-35164800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:35163400-35165000	Weak transcription	Fetal Muscle Trunk	muscle
46	chr11:35163400-35165200	Transcr. at gene 5' and 3'	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:35163400-35165400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:35163400-35166000	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:35163400-35166200	Transcr. at gene 5' and 3'	Hela-S3	cervix
50	chr11:35163400-35166600	Flanking Active TSS	Primary T cells from cord blood	blood

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