Variant report

Variant	rs61363543
Chromosome Location	chr2:98524510-98524511
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	MTA3	chr2:98524090-98525567	GM12878	blood:	n/a	n/a
2	BCLAF1	chr2:98524208-98525214	GM12878	blood:	n/a	n/a
3	NFIC	chr2:98524134-98525603	GM12878	blood:	n/a	n/a
4	NFATC1	chr2:98524412-98525147	GM12878	blood:	n/a	n/a
5	TBP	chr2:98524263-98525281	GM12878	blood:	n/a	n/a
6	FOXM1	chr2:98524474-98525553	GM12878	blood:	n/a	n/a
7	CHD1	chr2:98524356-98525101	GM12878	blood:	n/a	n/a
8	EBF1	chr2:98524510-98525053	GM12878	blood:	n/a	n/a
9	RELA	chr2:98524480-98525771	GM19099	blood:	n/a	n/a
10	SMC3	chr2:98524509-98525117	GM12878	blood:	n/a	n/a
11	IKZF1	chr2:98524506-98525318	GM12878	blood:	n/a	n/a
12	EBF1	chr2:98524231-98525732	GM12878	blood:	n/a	n/a
13	EBF1	chr2:98524503-98525086	GM12878	blood:	n/a	n/a
14	NFATC1	chr2:98524412-98525143	GM12878	blood:	n/a	n/a
15	PAX5	chr2:98524482-98525178	GM12878	blood:	n/a	n/a
16	EP300	chr2:98524239-98525259	GM12878	blood:	n/a	chr2:98524336-98524350
17	MAX	chr2:98524248-98525094	GM12878	blood:	n/a	n/a
18	TBL1XR1	chr2:98524498-98525521	GM12878	blood:	n/a	n/a
19	ATF2	chr2:98524483-98525610	GM12878	blood:	n/a	n/a
20	STAT1	chr2:98524249-98525042	GM12878	blood:	n/a	chr2:98524602-98524610
21	RUNX3	chr2:98524157-98525623	GM12878	blood:	n/a	n/a
22	PML	chr2:98524152-98525171	GM12878	blood:	n/a	chr2:98524827-98524835
23	ATF2	chr2:98524428-98525217	GM12878	blood:	n/a	n/a
24	BHLHE40	chr2:98524434-98525546	GM12878	blood:	n/a	n/a
25	RUNX3	chr2:98524403-98525612	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98519901..98521401-chr2:98524345..98526039,2	K562	blood:
2	chr2:98523325..98524831-chr2:98610615..98613167,2	MCF-7	breast:

Variant related genes	Relation type
TMEM131	TF binding region
ENSG00000075568	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs55853292	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55887737	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58415781	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs58576615	0.84[AFR][1000 genomes]
rs58690282	0.85[AFR][1000 genomes]
rs59444417	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59635122	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs59752876	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60567628	0.89[AFR][1000 genomes]
rs62154508	0.80[EUR][1000 genomes]
rs62154513	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62154516	0.87[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62154549	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62154552	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62154553	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62154555	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62154556	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62154558	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62156480	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62156482	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62156488	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62156507	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62156508	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62156509	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62156514	0.86[EUR][1000 genomes]
rs62156519	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62156522	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62156523	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62156524	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62156525	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62156526	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62156527	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs62156530	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62157630	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62158265	0.83[AFR][1000 genomes]
rs62158266	0.82[EUR][1000 genomes]
rs62158268	0.82[EUR][1000 genomes]
rs62158270	0.82[EUR][1000 genomes]
rs62158272	0.82[EUR][1000 genomes]
rs73960406	0.89[AFR][1000 genomes]
rs73960407	0.84[AFR][1000 genomes]
rs73960426	0.89[AFR][1000 genomes]
rs73960430	0.87[AFR][1000 genomes]
rs73960433	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73960435	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7420897	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7575922	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7606272	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526360	chr2:98403683-98814054	Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv521568	chr2:98403683-98826203	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1004220	chr2:98423421-98816010	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1007259	chr2:98429744-98818080	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv535832	chr2:98429744-98818080	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1009218	chr2:98442640-98816010	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1003925	chr2:98442640-98821102	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv999442	chr2:98448732-98816010	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1013902	chr2:98454309-98818080	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1013416	chr2:98472701-98688729	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98503800-98524800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:98503800-98528600	Weak transcription	NHDF-Ad	bronchial
3	chr2:98503800-98536400	Weak transcription	HSMMtube	muscle
4	chr2:98504000-98528000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:98504000-98533800	Weak transcription	Spleen	Spleen
6	chr2:98504000-98538800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:98504000-98540600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:98504000-98540800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:98504200-98525400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr2:98504200-98530800	Weak transcription	Thymus	Thymus
11	chr2:98504400-98527000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:98504600-98525600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr2:98504600-98540800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:98504600-98552200	Weak transcription	NHLF	lung
15	chr2:98504800-98527400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr2:98505400-98528800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:98505400-98530200	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr2:98507600-98535000	Weak transcription	Brain Anterior Caudate	brain
19	chr2:98509000-98536400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:98515800-98540800	Weak transcription	Aorta	Aorta
21	chr2:98516400-98534600	Weak transcription	A549	lung
22	chr2:98517600-98528000	Weak transcription	NH-A	brain
23	chr2:98518000-98524600	Weak transcription	Fetal Intestine Small	intestine
24	chr2:98519400-98524800	Weak transcription	Pancreas	Pancrea
25	chr2:98519600-98541600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:98519800-98538600	Weak transcription	Gastric	stomach
27	chr2:98520200-98528400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:98520200-98546000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr2:98520200-98552200	Weak transcription	Brain Angular Gyrus	brain
30	chr2:98520600-98550600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:98520800-98540400	Weak transcription	Lung	lung
32	chr2:98521200-98532800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:98521400-98525000	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:98521800-98525200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:98521800-98527400	Strong transcription	Primary T cells from cord blood	blood
36	chr2:98521800-98527600	Strong transcription	Fetal Intestine Large	intestine
37	chr2:98521800-98540400	Weak transcription	Colonic Mucosa	Colon
38	chr2:98522000-98525000	Strong transcription	Placenta	Placenta
39	chr2:98522200-98524600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr2:98522200-98525200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:98522200-98526800	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr2:98522200-98527200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr2:98522400-98524800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr2:98522400-98525000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:98522400-98525000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:98522400-98525000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:98522400-98525600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:98522600-98525000	Strong transcription	HepG2	liver
49	chr2:98522600-98525600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:98522600-98526000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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