Variant report

Variant	rs72918961
Chromosome Location	chr2:55512230-55512231
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	chr2:55512193-55512292	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:55511931-55512502	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:55494750..55497639-chr2:55510154..55512422,2	MCF-7	breast:
2	chr2:55508571..55512777-chr2:55645734..55648780,3	K562	blood:
3	chr2:55494928..55498059-chr2:55506695..55512310,8	K562	blood:
4	chr2:55510957..55512657-chr2:55520415..55521941,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206964	TF binding region
ENSG00000115355	Chromatin interaction
ENSG00000085760	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10153861	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10181997	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10184362	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10186158	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10191785	0.93[AFR][1000 genomes]
rs10194658	0.91[AFR][1000 genomes]
rs10196295	0.92[AFR][1000 genomes]
rs10199332	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10201075	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10202943	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10209908	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10518764	0.84[AFR][1000 genomes]
rs13383527	1.00[EUR][1000 genomes]
rs13384739	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13389151	1.00[EUR][1000 genomes]
rs13389799	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13390100	1.00[EUR][1000 genomes]
rs13398447	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13402277	1.00[EUR][1000 genomes]
rs13404740	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13405460	1.00[EUR][1000 genomes]
rs13406929	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13408706	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13411077	1.00[EUR][1000 genomes]
rs13411257	1.00[EUR][1000 genomes]
rs13412682	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13416519	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13417988	1.00[EUR][1000 genomes]
rs13419337	1.00[EUR][1000 genomes]
rs13424499	1.00[EUR][1000 genomes]
rs13426160	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13426766	1.00[EUR][1000 genomes]
rs13429863	1.00[EUR][1000 genomes]
rs17046801	1.00[EUR][1000 genomes]
rs17046820	1.00[EUR][1000 genomes]
rs17046828	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17046829	1.00[EUR][1000 genomes]
rs17046835	1.00[EUR][1000 genomes]
rs17046837	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17046881	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17046896	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17046898	1.00[EUR][1000 genomes]
rs17046954	1.00[EUR][1000 genomes]
rs17046959	1.00[EUR][1000 genomes]
rs17046963	1.00[EUR][1000 genomes]
rs17046964	1.00[EUR][1000 genomes]
rs17264948	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2043716	1.00[EUR][1000 genomes]
rs28434193	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28498550	1.00[EUR][1000 genomes]
rs3861571	1.00[EUR][1000 genomes]
rs3975804	1.00[EUR][1000 genomes]
rs56201519	1.00[EUR][1000 genomes]
rs57623398	1.00[EUR][1000 genomes]
rs59695161	1.00[EUR][1000 genomes]
rs60920006	1.00[EUR][1000 genomes]
rs6545485	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6545486	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6704701	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6707774	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6710128	1.00[EUR][1000 genomes]
rs6714932	1.00[EUR][1000 genomes]
rs6715991	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6719677	1.00[EUR][1000 genomes]
rs6726757	1.00[EUR][1000 genomes]
rs6729144	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6734415	1.00[EUR][1000 genomes]
rs6735009	1.00[EUR][1000 genomes]
rs6738517	1.00[EUR][1000 genomes]
rs6741630	1.00[EUR][1000 genomes]
rs6746757	0.93[AFR][1000 genomes]
rs6746983	0.93[AFR][1000 genomes]
rs6747974	0.93[AFR][1000 genomes]
rs6748541	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6754036	1.00[EUR][1000 genomes]
rs6758229	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6759625	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6759763	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6759957	0.94[AFR][1000 genomes]
rs6761771	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72918964	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918965	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918972	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72918975	1.00[EUR][1000 genomes]
rs72923130	1.00[EUR][1000 genomes]
rs72923156	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72923157	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72923183	1.00[EUR][1000 genomes]
rs72923187	1.00[EUR][1000 genomes]
rs72923194	1.00[EUR][1000 genomes]
rs72923197	1.00[EUR][1000 genomes]
rs72924917	1.00[EUR][1000 genomes]
rs72924922	1.00[EUR][1000 genomes]
rs72927340	1.00[EUR][1000 genomes]
rs72927384	1.00[EUR][1000 genomes]
rs72927388	1.00[EUR][1000 genomes]
rs72929306	1.00[EUR][1000 genomes]
rs7561604	1.00[EUR][1000 genomes]
rs7562535	1.00[EUR][1000 genomes]
rs7577510	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7589558	1.00[EUR][1000 genomes]
rs7594907	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9309264	0.81[AFR][1000 genomes];1.00[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	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers 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 target site	25 gene(s)	inside rSNPs	diseases
2	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv874157	chr2:55483020-55571085	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv1799450	chr2:55494904-55520842	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55501000-55517000	Weak transcription	Hela-S3	cervix
2	chr2:55509000-55541200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:55509400-55515600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:55509400-55545200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:55509600-55522600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:55509800-55514600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:55509800-55518600	Weak transcription	HMEC	breast
8	chr2:55509800-55521800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:55510000-55512600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:55510000-55513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:55510000-55514400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:55510000-55515400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:55510000-55516200	Weak transcription	Fetal Lung	lung
14	chr2:55510000-55518800	Weak transcription	Brain Angular Gyrus	brain
15	chr2:55510000-55521600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:55510000-55521600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:55510000-55521800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:55510000-55521800	Weak transcription	Fetal Brain Male	brain
19	chr2:55510000-55521800	Weak transcription	NHEK	skin
20	chr2:55510000-55522000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:55510000-55522200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:55510000-55522200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr2:55510000-55522400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:55510000-55522400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:55510000-55522600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:55510000-55541600	Weak transcription	Esophagus	oesophagus
27	chr2:55510000-55553600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:55510000-55578800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:55510200-55513200	Weak transcription	Brain Germinal Matrix	brain
30	chr2:55510200-55513200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:55510200-55513200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr2:55510200-55513400	Weak transcription	Fetal Stomach	stomach
33	chr2:55510200-55513400	Weak transcription	HSMM	muscle
34	chr2:55510200-55513600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:55510200-55514600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:55510200-55516000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr2:55510200-55516200	Weak transcription	NHDF-Ad	bronchial
38	chr2:55510200-55516600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr2:55510200-55517400	Weak transcription	Fetal Brain Female	brain
40	chr2:55510200-55519200	Weak transcription	Ovary	ovary
41	chr2:55510200-55520600	Weak transcription	HSMMtube	muscle
42	chr2:55510200-55521800	Weak transcription	Fetal Kidney	kidney
43	chr2:55510200-55522200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr2:55510200-55522400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:55510200-55522400	Weak transcription	NHLF	lung
46	chr2:55510200-55522600	Weak transcription	Aorta	Aorta
47	chr2:55510200-55542200	Weak transcription	Fetal Intestine Large	intestine
48	chr2:55510200-55559000	Weak transcription	Psoas Muscle	Psoas
49	chr2:55510200-55616800	Weak transcription	Fetal Intestine Small	intestine
50	chr2:55510400-55513000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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