Variant report

Variant	rs73069781
Chromosome Location	chr2:211308353-211308354
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	SP1	chr2:211308252-211308582	H1-hESC	embryonic stem cell:	n/a	chr2:211308451-211308462
2	TCF12	chr2:211308351-211308511	H1-hESC	embryonic stem cell:	n/a	n/a
3	TCF12	chr2:211308261-211308641	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
LANCL1	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11884102	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11884181	1.00[AMR][1000 genomes]
rs57335323	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58211283	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59537642	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60412797	1.00[AMR][1000 genomes]
rs73067660	1.00[AMR][1000 genomes]
rs73067699	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069732	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069733	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069739	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069746	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069754	1.00[AMR][1000 genomes]
rs73069755	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069756	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069760	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069766	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069772	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069773	1.00[AMR][1000 genomes]
rs73069774	1.00[AMR][1000 genomes]
rs73069775	1.00[AMR][1000 genomes]
rs73069776	1.00[AMR][1000 genomes]
rs73071705	1.00[AMR][1000 genomes]
rs73073540	1.00[AMR][1000 genomes]
rs73073545	1.00[AMR][1000 genomes]
rs73073546	1.00[AMR][1000 genomes]
rs73073547	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012567	chr2:211087588-211315554	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv875767	chr2:211119233-211334647	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv3147	chr2:211281479-211326844	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211292400-211323000	Weak transcription	Fetal Brain Male	brain
2	chr2:211293200-211311600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:211293800-211335400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:211294800-211322200	Weak transcription	K562	blood
5	chr2:211294800-211333200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:211295000-211330400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:211295000-211336000	Weak transcription	Colonic Mucosa	Colon
8	chr2:211295000-211340600	Weak transcription	HUVEC	blood vessel
9	chr2:211295400-211309200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:211296000-211309000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr2:211296000-211340200	Weak transcription	Small Intestine	intestine
12	chr2:211296400-211309200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:211296400-211341000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:211297400-211309000	Strong transcription	Brain Angular Gyrus	brain
15	chr2:211297400-211321400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr2:211297800-211336200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:211299400-211322600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:211299600-211322400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:211299800-211318600	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:211299800-211330000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:211300200-211326000	Weak transcription	NHDF-Ad	bronchial
22	chr2:211300400-211329800	Weak transcription	A549	lung
23	chr2:211301200-211317000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:211301200-211319200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:211301200-211319200	Weak transcription	Fetal Stomach	stomach
26	chr2:211301200-211322400	Weak transcription	Aorta	Aorta
27	chr2:211301200-211322600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:211301200-211322600	Weak transcription	Pancreas	Pancrea
29	chr2:211301200-211322600	Weak transcription	Spleen	Spleen
30	chr2:211301200-211325400	Weak transcription	Esophagus	oesophagus
31	chr2:211301200-211330000	Weak transcription	Gastric	stomach
32	chr2:211301200-211340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:211301200-211340600	Weak transcription	Fetal Intestine Small	intestine
34	chr2:211301200-211340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:211301400-211311000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:211301400-211318800	Weak transcription	Psoas Muscle	Psoas
37	chr2:211301400-211319000	Weak transcription	Fetal Kidney	kidney
38	chr2:211301400-211319200	Weak transcription	Thymus	Thymus
39	chr2:211301400-211330000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:211301400-211330800	Weak transcription	Right Ventricle	heart
41	chr2:211301400-211334400	Weak transcription	NHEK	skin
42	chr2:211301400-211336000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr2:211301800-211315800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:211301800-211318000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:211302200-211311400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr2:211302200-211319200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:211302600-211318400	Weak transcription	HMEC	breast
48	chr2:211302600-211319000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr2:211303000-211309200	Strong transcription	Primary T cells from cord blood	blood
50	chr2:211303000-211316600	Weak transcription	Placenta	Placenta

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