Variant report

Variant	rs57582887
Chromosome Location	chr2:97406354-97406355
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	chr2:97405551-97406383	GM12892	blood:	n/a	n/a
2	SPI1	chr2:97406309-97406483	K562	blood:	n/a	n/a
3	TBL1XR1	chr2:97405523-97406364	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:97405499-97406363	GM18505	blood:	n/a	n/a
5	REST	chr2:97405213-97406433	H1-neurons	neurons:	n/a	chr2:97405472-97405485
6	SIX5	chr2:97405590-97406389	A549	lung:	n/a	chr2:97406012-97406026
7	SPI1	chr2:97406245-97406553	GM12878	blood:	n/a	n/a
8	MAX	chr2:97405212-97406404	A549	lung:	n/a	chr2:97405516-97405526
9	EP300	chr2:97405680-97406364	K562	blood:	n/a	n/a
10	TBP	chr2:97405586-97406378	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:97405559-97406399	GM12891	blood:	n/a	n/a
12	SPI1	chr2:97406214-97406532	GM12891	blood:	n/a	n/a
13	SPI1	chr2:97406184-97406503	HL-60	blood:	n/a	n/a
14	ZNF384	chr2:97405820-97406407	K562	blood:	n/a	n/a
15	SPI1	chr2:97406226-97406529	HL-60	blood:	n/a	n/a
16	PML	chr2:97405421-97406452	GM12878	blood:	n/a	n/a
17	TEAD4	chr2:97405712-97406360	HepG2	liver:	n/a	n/a
18	MTA3	chr2:97405887-97406495	GM12878	blood:	n/a	n/a
19	SPI1	chr2:97406218-97406541	GM12891	blood:	n/a	n/a
20	RELA	chr2:97405281-97406370	GM15510	blood:	n/a	n/a
21	MEF2A	chr2:97405813-97406490	GM12878	blood:	n/a	chr2:97406053-97406068 chr2:97406051-97406068
22	SP1	chr2:97405436-97406398	HCT-116	colon:	n/a	chr2:97405874-97405886 chr2:97405874-97405885 chr2:97405517-97405531 chr2:97405874-97405886 chr2:97405805-97405814 chr2:97405962-97405976 chr2:97405875-97405884 chr2:97405876-97405885 chr2:97405944-97405951 chr2:97405549-97405558
23	MAZ	chr2:97405236-97406391	IMR90	lung:	n/a	chr2:97405516-97405526
24	MEF2C	chr2:97405821-97406471	GM12878	blood:	n/a	chr2:97406053-97406068 chr2:97406051-97406068
25	HCFC1	chr2:97404986-97406414	Hela-S3	cervix:	n/a	n/a
26	ARID3A	chr2:97405588-97406371	K562	blood:	n/a	n/a
27	SP1	chr2:97405221-97406438	HCT-116	colon:	n/a	chr2:97405874-97405886 chr2:97405874-97405885 chr2:97405517-97405531 chr2:97405874-97405886 chr2:97405805-97405814 chr2:97405962-97405976 chr2:97405875-97405884 chr2:97405876-97405885 chr2:97405944-97405951 chr2:97405549-97405558
28	BHLHE40	chr2:97405580-97406382	GM12878	blood:	n/a	n/a
29	ZNF143	chr2:97405720-97406390	K562	blood:	n/a	chr2:97406006-97406024
30	POLR2A	chr2:97405197-97406589	Raji	blood:	n/a	n/a
31	MYC	chr2:97405417-97406469	K562	blood:	n/a	chr2:97405516-97405526
32	ARID3A	chr2:97404823-97406362	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:58602939..58605273-chr2:97404594..97406842,2	MCF-7	breast:
2	chr2:97403401..97407119-chr2:97425023..97428100,7	MCF-7	breast:
3	chr2:97405153..97407675-chr2:97425109..97427390,3	K562	blood:
4	chr2:97377199..97379924-chr2:97404975..97407018,2	MCF-7	breast:
5	chr2:97402906..97407899-chr2:97425229..97430147,10	MCF-7	breast:
6	chr2:97405027..97406967-chr2:97777321..97779642,2	K562	blood:
7	chr2:97404813..97407675-chr2:97425727..97428415,3	K562	blood:
8	chr2:97301549..97303722-chr2:97403763..97406916,3	K562	blood:
9	chr2:97406214..97407838-chr2:97479050..97481176,2	K562	blood:
10	chr2:97303356..97305240-chr2:97403490..97407519,4	MCF-7	breast:

Variant related genes	Relation type
LMAN2L	TF binding region
ENSG00000273265	Chromatin interaction
ENSG00000114988	Chromatin interaction
ENSG00000135976	Chromatin interaction
ENSG00000114982	Chromatin interaction
ENSG00000062725	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000259349	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10203346	0.81[ASN][1000 genomes]
rs11889085	0.95[ASN][1000 genomes]
rs12172	0.83[ASN][1000 genomes]
rs1320146	0.83[ASN][1000 genomes]
rs13419073	0.83[ASN][1000 genomes]
rs17119562	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17119564	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119591	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17119598	0.83[ASN][1000 genomes]
rs2139406	0.96[EUR][1000 genomes]
rs2276654	0.83[ASN][1000 genomes]
rs2280356	0.98[EUR][1000 genomes]
rs2314399	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2872633	1.00[EUR][1000 genomes]
rs3731940	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3731941	0.88[ASN][1000 genomes]
rs56797569	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56913233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58147284	0.83[ASN][1000 genomes]
rs59073958	0.92[EUR][1000 genomes]
rs59648446	0.88[EUR][1000 genomes]
rs61742095	1.00[EUR][1000 genomes]
rs61750875	0.90[EUR][1000 genomes]
rs62152765	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62152766	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152767	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152768	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62152770	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62152771	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152772	0.95[ASN][1000 genomes]
rs62152773	0.95[ASN][1000 genomes]
rs62152774	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62152775	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs62152777	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62152780	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62152783	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62152784	0.84[ASN][1000 genomes]
rs62152785	0.90[ASN][1000 genomes]
rs62152786	0.88[ASN][1000 genomes]
rs62152787	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62152788	0.81[ASN][1000 genomes]
rs62152790	0.83[ASN][1000 genomes]
rs62152793	0.83[ASN][1000 genomes]
rs62152794	0.83[ASN][1000 genomes]
rs62152834	0.83[ASN][1000 genomes]
rs62152860	0.81[ASN][1000 genomes]
rs62156206	0.96[EUR][1000 genomes]
rs62156207	0.96[EUR][1000 genomes]
rs62156208	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156209	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156210	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156213	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156219	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156220	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156221	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156222	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156223	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156225	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156226	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156227	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156228	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156229	0.85[ASN][1000 genomes]
rs62156230	1.00[ASN][1000 genomes]
rs62156231	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62156232	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62156233	1.00[ASN][1000 genomes]
rs62156234	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6576981	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576986	0.83[ASN][1000 genomes]
rs6576987	0.83[ASN][1000 genomes]
rs6751132	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6756482	0.90[ASN][1000 genomes]
rs6758151	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72809850	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72811623	0.83[ASN][1000 genomes]
rs7568206	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7580942	0.83[ASN][1000 genomes]
rs878064	0.98[ASN][1000 genomes]
rs9973492	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription 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 miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' 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	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription 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	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS 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 target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
14	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
15	nsv834307	chr2:97321447-97479266	Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
16	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97404800-97406400	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr2:97404800-97406400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:97404800-97406400	Active TSS	Psoas Muscle	Psoas
4	chr2:97404800-97406600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr2:97405000-97406400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr2:97405000-97406400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:97405000-97406400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:97405000-97406400	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:97405000-97406400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:97405000-97406400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr2:97405000-97406400	Active TSS	Aorta	Aorta
12	chr2:97405000-97406400	Active TSS	Ovary	ovary
13	chr2:97405000-97406400	Active TSS	Right Atrium	heart
14	chr2:97405000-97406400	Active TSS	GM12878-XiMat	blood
15	chr2:97405200-97406400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:97405200-97406400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr2:97405200-97406400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:97405200-97406400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:97405200-97406400	Active TSS	Brain Substantia Nigra	brain
20	chr2:97405200-97406400	Active TSS	Rectal Smooth Muscle	rectum
21	chr2:97405200-97406400	Active TSS	Right Ventricle	heart
22	chr2:97405200-97406400	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr2:97405200-97406400	Active TSS	Stomach Mucosa	stomach
24	chr2:97405200-97406400	Active TSS	NHEK	skin
25	chr2:97405200-97406600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr2:97405200-97406600	Active TSS	Brain Cingulate Gyrus	brain
27	chr2:97405200-97406600	Active TSS	Duodenum Mucosa	Duodenum
28	chr2:97405400-97406400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:97405400-97406400	Active TSS	Brain Angular Gyrus	brain
30	chr2:97405400-97406400	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr2:97405400-97406400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr2:97405400-97406400	Active TSS	Colon Smooth Muscle	Colon
33	chr2:97405400-97406400	Active TSS	Duodenum Smooth Muscle	Duodenum
34	chr2:97405400-97406400	Active TSS	Fetal Brain Female	brain
35	chr2:97405400-97406400	Active TSS	Thymus	Thymus
36	chr2:97405400-97406400	Active TSS	HSMMtube	muscle
37	chr2:97405400-97406400	Active TSS	NH-A	brain
38	chr2:97405400-97406600	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr2:97405400-97406600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:97405400-97406600	Active TSS	Adipose Nuclei	Adipose
41	chr2:97405400-97406600	Active TSS	Brain Germinal Matrix	brain
42	chr2:97405400-97406600	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr2:97405400-97406600	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr2:97405400-97406600	Active TSS	Stomach Smooth Muscle	stomach
45	chr2:97405600-97406400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:97405600-97406400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:97405600-97406600	Active TSS	Colonic Mucosa	Colon
48	chr2:97405800-97406400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:97406000-97406400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr2:97406000-97406400	Flanking Active TSS	Primary hematopoietic stem cells	blood

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