Variant report

Variant	rs73503965
Chromosome Location	chr11:67170117-67170118
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RXRA	chr11:67169985-67170289	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:67169442-67170302	GM12892	blood:	n/a	n/a
3	ESRRA	chr11:67168054-67170133	GM12878	blood:	n/a	chr11:67168509-67168528 chr11:67168993-67169006
4	POLR2A	chr11:67169449-67170181	K562	blood:	n/a	n/a
5	POLR2A	chr11:67170066-67170419	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:67167531-67170414	K562	blood:	n/a	n/a
7	POLR2A	chr11:67167820-67170497	HepG2	liver:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67169458..67170981-chr11:67395098..67397587,2	K562	blood:
2	chr11:67167428..67170410-chr11:67219775..67221650,2	MCF-7	breast:
3	chr11:67166766..67171737-chr11:67231413..67236466,7	K562	blood:
4	chr11:67169719..67170476-chr11:67195567..67196420,2	MCF-7	breast:
5	chr11:67167204..67172690-chr11:67247088..67251861,6	K562	blood:
6	chr11:67169390..67171344-chr11:67351281..67353180,2	K562	blood:
7	chr11:67169616..67172754-chr11:67249059..67251001,3	MCF-7	breast:
8	chr11:67165362..67170814-chr11:67205782..67211749,9	K562	blood:
9	chr11:67168541..67170644-chr11:67250058..67251865,2	MCF-7	breast:
10	chr11:67164456..67171429-chr11:67268926..67279263,19	K562	blood:
11	chr11:67167808..67170779-chr11:67274850..67277472,4	MCF-7	breast:
12	chr11:67167204..67171216-chr11:67247088..67251861,5	K562	blood:
13	chr11:67164667..67170931-chr11:67232207..67238345,15	MCF-7	breast:
14	chr11:67166559..67171272-chr11:67271633..67274655,6	MCF-7	breast:
15	chr11:67168005..67170770-chr11:67269467..67273329,6	K562	blood:
16	chr11:67164491..67170697-chr11:67268115..67277759,17	MCF-7	breast:

No data

Variant related genes	Relation type
PPP1CA	TF binding region
TBC1D10C	TF binding region
ENSG00000172663	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000084207	Chromatin interaction
ENSG00000175514	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000175634	Chromatin interaction
ENSG00000110711	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000175544	Chromatin interaction
ENSG00000172725	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1638585	1.00[EUR][1000 genomes]
rs1638587	1.00[AMR][1000 genomes]
rs73508321	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
4	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
5	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
8	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
9	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
10	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
11	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Enhancers 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	154 gene(s)	inside rSNPs	diseases
12	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
13	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
15	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
16	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
17	nsv516453	chr11:67164495-67186000	Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
19	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
20	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
21	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
22	esv3335687	chr11:67168076-67170524	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
23	esv3439784	chr11:67168201-67170749	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67168600-67170200	Active TSS	Colon Smooth Muscle	Colon
2	chr11:67169000-67170600	Active TSS	Colonic Mucosa	Colon
3	chr11:67169200-67171400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr11:67169400-67170200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:67169600-67170200	Flanking Active TSS	Primary B cells from cord blood	blood
6	chr11:67169600-67170200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
7	chr11:67169600-67170200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:67169600-67170200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr11:67169600-67170200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr11:67169600-67170200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr11:67169600-67170200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:67169600-67170400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr11:67169600-67171000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr11:67169600-67171000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr11:67169600-67171200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
16	chr11:67169600-67171200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr11:67169600-67171400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr11:67169600-67171400	Flanking Active TSS	Dnd41	blood
19	chr11:67169600-67171600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr11:67169600-67172600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr11:67169600-67172800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:67169800-67170200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr11:67169800-67170200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:67169800-67170200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:67169800-67170200	Enhancers	Liver	Liver
26	chr11:67169800-67170200	Enhancers	Brain Substantia Nigra	brain
27	chr11:67169800-67170200	Enhancers	Pancreas	Pancrea
28	chr11:67169800-67170200	Enhancers	Right Ventricle	heart
29	chr11:67169800-67170200	Enhancers	GM12878-XiMat	blood
30	chr11:67169800-67170200	Enhancers	HMEC	breast
31	chr11:67169800-67170400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr11:67169800-67170400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr11:67169800-67170400	Enhancers	Fetal Lung	lung
34	chr11:67169800-67170600	Enhancers	HepG2	liver
35	chr11:67169800-67170800	Enhancers	Brain Anterior Caudate	brain
36	chr11:67169800-67170800	Enhancers	Brain Hippocampus Middle	brain
37	chr11:67169800-67171000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:67169800-67171000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr11:67169800-67171000	Enhancers	Lung	lung
40	chr11:67169800-67171200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr11:67169800-67171200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:67169800-67171200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:67169800-67171200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:67169800-67171200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr11:67169800-67171400	Weak transcription	Esophagus	oesophagus
46	chr11:67169800-67171400	Enhancers	Fetal Muscle Leg	muscle
47	chr11:67169800-67171400	Weak transcription	Small Intestine	intestine
48	chr11:67169800-67171600	Enhancers	Placenta	Placenta
49	chr11:67169800-67171600	Weak transcription	Gastric	stomach
50	chr11:67169800-67172200	Weak transcription	HSMM	muscle

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