Variant report

Variant	rs72998602
Chromosome Location	chr11:74972833-74972834
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	chr11:74972321-74975634	SK-N-MC	brain:	n/a	n/a
2	FOSL2	chr11:74971509-74976382	HepG2	liver:	n/a	chr11:74971577-74971585 chr11:74974928-74974935 chr11:74975559-74975566 chr11:74973312-74973323
3	POLR2A	chr11:74971898-74976256	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:74970659-74972996	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:74970661-74975531	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr11:74972460-74972861	A549	lung:	n/a	n/a
7	POLR2A	chr11:74970751-74976821	K562	blood:	n/a	n/a
8	POLR2A	chr11:74972514-74973225	MCF-7	breast:	n/a	n/a
9	POLR2A	chr11:74970936-74976112	PANC-1	pancreas:	n/a	n/a
10	BCL3	chr11:74972312-74973008	A549	lung:	n/a	n/a
11	POLR2A	chr11:74971481-74976215	HL-60	blood:	n/a	n/a
12	POLR2A	chr11:74971157-74973121	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr11:74972526-74972861	A549	lung:	n/a	n/a
14	POLR2A	chr11:74971848-74974481	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr11:74970589-74976993	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr11:74971182-74976570	HL-60	blood:	n/a	n/a
17	POLR2A	chr11:74972557-74974637	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:74970752-74976811	K562	blood:	n/a	n/a
19	POLR2A	chr11:74972492-74974651	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:74972514-74973126	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr11:74970887-74974659	HUVEC	blood vessel:	n/a	n/a
22	SPI1	chr11:74972401-74972974	HL-60	blood:	n/a	n/a
23	POLR2A	chr11:74972825-74972857	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:74699676..74701249-chr11:74971380..74973651,2	K562	blood:
2	chr11:74971389..74975056-chr11:74976181..74978822,5	K562	blood:
3	chr11:74966809..74968551-chr11:74971932..74974364,2	K562	blood:
4	chr11:74968499..74971353-chr11:74972095..74974406,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254963	TF binding region
ENSG00000162139	Chromatin interaction
ENSG00000254429	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12721494	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17133815	0.92[EUR][1000 genomes]
rs17133831	0.82[EUR][1000 genomes]
rs17133844	0.89[EUR][1000 genomes]
rs17133848	0.89[EUR][1000 genomes]
rs17133858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801906	0.82[EUR][1000 genomes]
rs2035208	0.82[EUR][1000 genomes]
rs34827001	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41298117	1.00[EUR][1000 genomes]
rs41298121	0.82[EUR][1000 genomes]
rs4362167	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56738638	0.82[EUR][1000 genomes]
rs56958854	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57277559	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57279023	0.82[EUR][1000 genomes]
rs57654883	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59390914	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59940449	0.87[EUR][1000 genomes]
rs60893479	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61265142	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67495709	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67947456	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72998568	0.92[EUR][1000 genomes]
rs72998587	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72998590	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72998593	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72998594	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73488764	0.82[EUR][1000 genomes]
rs7924924	0.82[EUR][1000 genomes]
rs7927925	1.00[EUR][1000 genomes]
rs7951787	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74969200-74976600	Weak transcription	Ovary	ovary
2	chr11:74969800-74973800	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr11:74969800-74976000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:74969800-74976000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr11:74969800-74976200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr11:74970000-74976000	Enhancers	Primary T cells fromperipheralblood	blood
7	chr11:74970600-74973000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr11:74970600-74973200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:74970600-74975000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:74970600-74975400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:74970600-74975800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:74970800-74973000	Enhancers	Right Ventricle	heart
13	chr11:74970800-74973200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:74970800-74973200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr11:74970800-74973200	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr11:74970800-74975800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:74970800-74988200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr11:74971000-74973400	Enhancers	Primary T cells from cord blood	blood
19	chr11:74971000-74973600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr11:74971000-74974600	Enhancers	Stomach Smooth Muscle	stomach
21	chr11:74971200-74973200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr11:74971200-74975200	Weak transcription	Fetal Intestine Small	intestine
23	chr11:74971200-74975800	Enhancers	Adipose Nuclei	Adipose
24	chr11:74971200-74976200	Enhancers	Primary hematopoietic stem cells	blood
25	chr11:74971400-74973200	Enhancers	Left Ventricle	heart
26	chr11:74971400-74974200	Enhancers	Spleen	Spleen
27	chr11:74971400-74974600	Enhancers	Lung	lung
28	chr11:74971400-74977800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr11:74971600-74973200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:74971600-74973200	Weak transcription	Esophagus	oesophagus
31	chr11:74971600-74974200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr11:74971600-74976000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr11:74971800-74975400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr11:74971800-74976800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:74971800-74977600	Enhancers	Primary B cells from peripheral blood	blood
36	chr11:74971800-74978200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:74972000-74975000	Weak transcription	Fetal Brain Female	brain
38	chr11:74972000-74976600	Weak transcription	Fetal Muscle Leg	muscle
39	chr11:74972000-74977000	Weak transcription	Brain Anterior Caudate	brain
40	chr11:74972000-74977000	Weak transcription	Fetal Lung	lung
41	chr11:74972000-74977200	Enhancers	Primary B cells from cord blood	blood
42	chr11:74972200-74973200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr11:74972200-74973400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr11:74972200-74975200	Weak transcription	Fetal Stomach	stomach
45	chr11:74972200-74976800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr11:74972200-74978200	Weak transcription	Colonic Mucosa	Colon
47	chr11:74972200-74984600	Weak transcription	Thymus	Thymus
48	chr11:74972400-74973000	Weak transcription	Fetal Muscle Trunk	muscle
49	chr11:74972400-74976000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:74972400-75004400	Weak transcription	Fetal Brain Male	brain

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