Variant report

Variant	rs72922077
Chromosome Location	chr11:64044284-64044285
allele	A/C
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	chr11:64044178-64044433	A549	lung:	n/a	n/a
2	TFAP2A	chr11:64044021-64044613	Hela-S3	cervix:	n/a	chr11:64044161-64044175 chr11:64044349-64044364 chr11:64044161-64044175 chr11:64044353-64044363
3	FOS	chr11:64044207-64044589	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr11:64044261-64044459	Hela-S3	cervix:	n/a	n/a
5	STAT3	chr11:64044267-64044390	MCF10A-Er-Src	breast:	n/a	n/a
6	EBF1	chr11:64044029-64044339	GM12878	blood:	n/a	chr11:64044163-64044172 chr11:64044162-64044173 chr11:64044213-64044223 chr11:64044161-64044174 chr11:64044139-64044150 chr11:64044213-64044222
7	JUND	chr11:64044193-64044871	A549	lung:	n/a	chr11:64044704-64044713
8	FOSL2	chr11:64044166-64044698	A549	lung:	n/a	n/a
9	POLR2A	chr11:64044171-64044881	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr11:64044220-64044286	MCF-7	breast:	n/a	n/a
11	E2F4	chr11:64044147-64044347	MCF10A-Er-Src	breast:	n/a	n/a
12	MAX	chr11:64044053-64044928	A549	lung:	n/a	n/a
13	STAT3	chr11:64044232-64044416	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr11:64044247-64044345	MCF10A-Er-Src	breast:	n/a	n/a
15	MYC	chr11:64044281-64044296	MCF-7	breast:	n/a	n/a
16	GTF2F1	chr11:64044244-64044520	Hela-S3	cervix:	n/a	n/a
17	STAT3	chr11:64044269-64044461	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr11:64044221-64044548	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr11:64044183-64044584	MCF10A-Er-Src	breast:	n/a	n/a
20	FOXA2	chr11:64044094-64044583	A549	lung:	n/a	n/a
21	TEAD4	chr11:64044170-64044630	A549	lung:	n/a	n/a
22	POLR2A	chr11:64044225-64044355	Hela-S3	cervix:	n/a	n/a
23	FOSL2	chr11:64044223-64044568	A549	lung:	n/a	n/a
24	RFX5	chr11:64044252-64044545	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:64044255-64044300	MCF-7	breast:	n/a	n/a
26	GABPA	chr11:64044154-64044617	A549	lung:	n/a	n/a
27	YY1	chr11:64044220-64044496	A549	lung:	n/a	n/a
28	MAZ	chr11:64044165-64044365	Hela-S3	cervix:	n/a	n/a
29	SP1	chr11:64043995-64044654	A549	lung:	n/a	chr11:64044228-64044238 chr11:64044228-64044238
30	MAX	chr11:64044031-64045065	A549	lung:	n/a	n/a
31	GATA3	chr11:64044014-64044779	A549	lung:	n/a	n/a
32	FOS	chr11:64044216-64044589	MCF10A-Er-Src	breast:	n/a	n/a
33	MYC	chr11:64044128-64044576	MCF10A-Er-Src	breast:	n/a	n/a
34	BCL3	chr11:64044078-64044516	A549	lung:	n/a	n/a
35	SP1	chr11:64044040-64044671	A549	lung:	n/a	chr11:64044228-64044238 chr11:64044228-64044238
36	EP300	chr11:64044099-64044675	A549	lung:	n/a	n/a
37	TFAP2C	chr11:64044016-64044862	Hela-S3	cervix:	n/a	chr11:64044349-64044364 chr11:64044303-64044318
38	EP300	chr11:64044160-64044692	A549	lung:	n/a	n/a
39	MAX	chr11:64044225-64044492	Hela-S3	cervix:	n/a	n/a
40	SMC3	chr11:64044179-64044523	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr11:64044185-64044473	Hela-S3	cervix:	n/a	n/a
42	RCOR1	chr11:64044160-64044568	Hela-S3	cervix:	n/a	n/a
43	MYC	chr11:64044098-64044705	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64043284..64045946-chr11:64047398..64048977,2	MCF-7	breast:
2	chr11:64032072..64048684-chr11:64048768..64055711,68	MCF-7	breast:
3	chr11:64033188..64045448-chr11:64059274..64075790,38	MCF-7	breast:
4	chr11:64042595..64046939-chr11:64049156..64053929,8	MCF-7	breast:
5	chr11:63951667..63955297-chr11:64041322..64044678,4	MCF-7	breast:

Variant related genes	Relation type
BAD	TF binding region
ENSG00000173264	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000182450	Chromatin interaction
ENSG00000207024	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000002330	Chromatin interaction
ENSG00000168439	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11231741	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11231746	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11231749	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1317494	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28364831	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28395882	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3815362	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56057146	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66493355	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7122759	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72924108	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs731703	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7943988	0.86[AMR][1000 genomes]
rs9787810	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv469961	chr11:63822940-64085967	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
6	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription 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	231 gene(s)	inside rSNPs	diseases
7	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
8	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS 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 miRNA target site	237 gene(s)	inside rSNPs	diseases
10	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
11	nsv468593	chr11:63941734-64089874	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
12	nsv555185	chr11:63941734-64089874	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
13	nsv555186	chr11:63949095-64097233	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
14	nsv897667	chr11:63964657-64078380	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
15	nsv897668	chr11:63964657-64085298	Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
16	nsv897669	chr11:63964657-64089874	Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
17	nsv897670	chr11:63964657-64097233	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
18	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
19	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
20	nsv897672	chr11:63979643-64082807	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS 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	140 gene(s)	inside rSNPs	diseases
21	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
22	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
23	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
24	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64039400-64044400	Enhancers	Stomach Mucosa	stomach
2	chr11:64039600-64046200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:64039600-64049000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr11:64039600-64050400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:64039600-64050800	Weak transcription	Psoas Muscle	Psoas
6	chr11:64039600-64051000	Weak transcription	Fetal Kidney	kidney
7	chr11:64039600-64051000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr11:64039600-64051400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:64039600-64051400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:64039600-64051600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:64039800-64044400	Weak transcription	Primary T cells from cord blood	blood
12	chr11:64039800-64044400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:64039800-64044400	Weak transcription	HSMMtube	muscle
14	chr11:64039800-64044400	Weak transcription	NH-A	brain
15	chr11:64039800-64044600	Weak transcription	Brain Angular Gyrus	brain
16	chr11:64039800-64049000	Weak transcription	Colon Smooth Muscle	Colon
17	chr11:64039800-64050000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:64039800-64050800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr11:64039800-64051000	Weak transcription	Primary B cells from cord blood	blood
20	chr11:64039800-64051000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr11:64039800-64051000	Weak transcription	HSMM	muscle
22	chr11:64039800-64051000	Weak transcription	HUVEC	blood vessel
23	chr11:64039800-64051400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr11:64040000-64049000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:64040000-64050600	Strong transcription	Fetal Stomach	stomach
26	chr11:64040000-64050800	Weak transcription	Fetal Brain Male	brain
27	chr11:64040000-64051200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr11:64040200-64047400	Strong transcription	Fetal Muscle Leg	muscle
29	chr11:64040200-64047600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:64040200-64051400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr11:64040400-64050600	Weak transcription	GM12878-XiMat	blood
32	chr11:64040400-64051000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr11:64041400-64046800	Strong transcription	Thymus	Thymus
34	chr11:64041400-64051000	Weak transcription	HepG2	liver
35	chr11:64041600-64047200	Strong transcription	Fetal Intestine Small	intestine
36	chr11:64042200-64047200	Genic enhancers	Placenta	Placenta
37	chr11:64042200-64050800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:64042400-64044400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr11:64042400-64045000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:64042400-64046800	Strong transcription	Fetal Brain Female	brain
41	chr11:64042400-64047000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:64042400-64047000	Strong transcription	Brain Germinal Matrix	brain
43	chr11:64042400-64047000	Strong transcription	Stomach Smooth Muscle	stomach
44	chr11:64042400-64050600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr11:64042600-64044400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:64042600-64044800	Strong transcription	Brain Substantia Nigra	brain
47	chr11:64042600-64044800	Genic enhancers	Gastric	stomach
48	chr11:64042600-64044800	Strong transcription	Pancreas	Pancrea
49	chr11:64042600-64045000	Genic enhancers	Sigmoid Colon	Sigmoid Colon
50	chr11:64042600-64045200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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