Variant report

Variant	rs62155511
Chromosome Location	chr2:96657575-96657576
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	chr2:96657341-96658972	GM12878	blood:	n/a	chr2:96657731-96657745 chr2:96657736-96657745 chr2:96657735-96657745 chr2:96657735-96657744 chr2:96657734-96657746 chr2:96657734-96657746
2	POLR2A	chr2:96657375-96658384	HepG2	liver:	n/a	n/a
3	SPI1	chr2:96657563-96658163	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:96657277-96658325	PANC-1	pancreas:	n/a	n/a
5	CBX3	chr2:96657325-96658290	K562	blood:	n/a	n/a
6	USF1	chr2:96657385-96658250	A549	lung:	n/a	chr2:96658035-96658051
7	MAZ	chr2:96657282-96657617	K562	blood:	n/a	chr2:96657579-96657589
8	POLR2A	chr2:96657135-96658462	GM12891	blood:	n/a	n/a
9	BHLHE40	chr2:96657453-96657904	HepG2	liver:	n/a	n/a
10	FOXP2	chr2:96657475-96657843	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr2:96657302-96657603	HCT-116	colon:	n/a	n/a
12	POLR2A	chr2:96657286-96658197	ProgFib	skin:	n/a	n/a
13	POLR2A	chr2:96657345-96658286	HepG2	liver:	n/a	n/a
14	MYBL2	chr2:96657393-96658961	HepG2	liver:	n/a	chr2:96657778-96657792
15	SP1	chr2:96657505-96658237	A549	lung:	n/a	chr2:96657731-96657745 chr2:96657736-96657745 chr2:96657735-96657745 chr2:96657735-96657744 chr2:96657734-96657746 chr2:96657734-96657746
16	POLR2A	chr2:96657413-96658054	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:96657260-96657995	GM12892	blood:	n/a	n/a
18	MAX	chr2:96657224-96657624	MCF-7	breast:	n/a	chr2:96657579-96657589
19	E2F6	chr2:96657352-96658167	K562	blood:	n/a	chr2:96657577-96657588 chr2:96658042-96658052
20	POLR2A	chr2:96657411-96658586	A549	lung:	n/a	n/a
21	IRF4	chr2:96657365-96659011	GM12878	blood:	n/a	n/a
22	POLR2A	chr2:96657431-96658742	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr2:96657046-96658606	GM12878	blood:	n/a	n/a
24	TAF1	chr2:96657315-96658842	H1-hESC	embryonic stem cell:	n/a	n/a
25	TCF3	chr2:96657443-96658689	GM12878	blood:	n/a	chr2:96658363-96658376
26	TAF1	chr2:96657325-96658584	HepG2	liver:	n/a	n/a
27	PBX3	chr2:96657484-96657707	GM12878	blood:	n/a	n/a
28	TAF1	chr2:96657336-96658534	GM12891	blood:	n/a	n/a
29	TAF1	chr2:96657382-96658674	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr2:96657095-96658969	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr2:96657203-96657599	K562	blood:	n/a	n/a
32	POLR2A	chr2:96657527-96657718	H1-hESC	embryonic stem cell:	n/a	n/a
33	SIN3AK20	chr2:96657381-96658584	HepG2	liver:	n/a	n/a
34	CTCF	chr2:96657498-96658481	Spleen_OC	spleen:	n/a	chr2:96658205-96658218 chr2:96658100-96658113
35	NR2F2	chr2:96657232-96657842	K562	blood:	n/a	n/a
36	HEY1	chr2:96657267-96658946	HepG2	liver:	n/a	chr2:96658458-96658473 chr2:96658194-96658209 chr2:96658478-96658487 chr2:96658146-96658161 chr2:96657728-96657743 chr2:96657730-96657745
37	POLR2A	chr2:96657075-96658801	SK-N-MC	brain:	n/a	n/a
38	FOSL2	chr2:96657347-96657897	HepG2	liver:	n/a	n/a
39	E2F6	chr2:96657454-96657584	K562	blood:	n/a	n/a
40	MYBL2	chr2:96657423-96658967	HepG2	liver:	n/a	chr2:96657778-96657792
41	CEBPD	chr2:96657560-96657977	K562	blood:	n/a	n/a
42	ZBTB33	chr2:96657397-96658099	HepG2	liver:	n/a	chr2:96657687-96657697
43	FOXM1	chr2:96657224-96658969	GM12878	blood:	n/a	n/a
44	ZBTB33	chr2:96657541-96657967	HepG2	liver:	n/a	chr2:96657687-96657697
45	BATF	chr2:96657475-96657892	GM12878	blood:	n/a	n/a
46	SIN3AK20	chr2:96657444-96657802	A549	lung:	n/a	n/a
47	FOXM1	chr2:96657473-96658108	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:96657335-96657592	HCT-116	colon:	n/a	n/a
49	POLR2A	chr2:96657306-96658333	MCF-7	breast:	n/a	n/a
50	EBF1	chr2:96657440-96658276	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:96656872..96660081-chr2:96874473..96876452,3	MCF-7	breast:
2	chr2:96656483..96658831-chr2:96781728..96784486,2	K562	blood:

Variant related genes	Relation type
ANKRD36C	TF binding region
ENSG00000084090	Chromatin interaction
ENSG00000222040	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11687113	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2438978	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2462776	0.82[ASN][1000 genomes]
rs2579515	0.89[ASN][1000 genomes]
rs2579517	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2692954	0.90[ASN][1000 genomes]
rs2918816	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2918929	0.86[ASN][1000 genomes]
rs2969475	0.88[ASN][1000 genomes]
rs2969477	0.90[ASN][1000 genomes]
rs4144055	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4907226	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62155508	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62155510	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6740563	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72492201	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3416818	chr2:96072529-96680708	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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	43 gene(s)	inside rSNPs	diseases
2	nsv874660	chr2:96091132-96669134	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv516044	chr2:96150959-96683378	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1003371	chr2:96326106-96684876	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv874666	chr2:96370571-96691125	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv961832	chr2:96453677-96671971	Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv834304	chr2:96493545-96667472	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1004486	chr2:96544604-96684876	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv874669	chr2:96547820-96691125	Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv818073	chr2:96554851-96683378	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
12	nsv870250	chr2:96610946-96739308	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	esv1838669	chr2:96613136-96674509	Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	esv1839005	chr2:96613136-96674509	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	esv1836246	chr2:96622689-96674509	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	esv1837811	chr2:96622689-96730375	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv874670	chr2:96637870-96693357	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv874671	chr2:96637870-96727850	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv874672	chr2:96637870-96809331	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
20	nsv874673	chr2:96647856-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
21	nsv874674	chr2:96651163-96741944	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	esv3425400	chr2:96655850-96658398	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	esv3382403	chr2:96656125-96658223	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	esv3389270	chr2:96656575-96657673	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62155511	FAHD2CP	cis	lung	GTEx
rs62155511	AC008268.2	cis	Adipose Subcutaneous	GTEx
rs62155511	ADRA2B	cis	Thyroid	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96624000-96658200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:96655800-96658400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:96655800-96658600	Active TSS	Fetal Brain Female	brain
4	chr2:96655800-96658600	Active TSS	K562	blood
5	chr2:96656000-96658400	Active TSS	HUVEC	blood vessel
6	chr2:96656400-96658400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:96656400-96658400	Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr2:96656400-96658400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:96656400-96658400	Active TSS	Muscle Satellite Cultured Cells	--
10	chr2:96656400-96658400	Active TSS	GM12878-XiMat	blood
11	chr2:96656400-96658400	Active TSS	HMEC	breast
12	chr2:96656400-96658600	Active TSS	NH-A	brain
13	chr2:96656400-96658800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:96656400-96658800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:96656400-96658800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:96656400-96658800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:96656400-96658800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:96656400-96658800	Active TSS	Brain Germinal Matrix	brain
19	chr2:96656400-96658800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr2:96656600-96657600	Active TSS	Fetal Kidney	kidney
21	chr2:96656600-96658200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:96656600-96658400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr2:96656600-96658400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:96656600-96658400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:96656600-96658400	Active TSS	Pancreas	Pancrea
26	chr2:96656600-96658400	Active TSS	HSMM	muscle
27	chr2:96656600-96658400	Active TSS	NHEK	skin
28	chr2:96656600-96658400	Active TSS	NHLF	lung
29	chr2:96656600-96658400	Active TSS	Osteobl	bone
30	chr2:96656600-96658600	Active TSS	H9 Cell Line	embryonic stem cell
31	chr2:96656600-96658600	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:96656600-96658600	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr2:96656600-96658600	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr2:96656600-96658600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:96656600-96658600	Active TSS	Brain Anterior Caudate	brain
36	chr2:96656600-96658600	Active TSS	Fetal Intestine Small	intestine
37	chr2:96656600-96658600	Active TSS	Fetal Stomach	stomach
38	chr2:96656600-96658600	Active TSS	Fetal Thymus	thymus
39	chr2:96656600-96658600	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr2:96656600-96658600	Active TSS	Right Atrium	heart
41	chr2:96656600-96658800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:96656600-96658800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:96656600-96658800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:96656600-96658800	Active TSS	Cortex derived primary cultured neurospheres	brain
45	chr2:96656600-96658800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:96656600-96658800	Active TSS	Duodenum Mucosa	Duodenum
47	chr2:96656600-96658800	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr2:96656600-96658800	Active TSS	A549	lung
49	chr2:96656600-96658800	Active TSS	Dnd41	blood
50	chr2:96656600-96658800	Active TSS	Monocytes-CD14+_RO01746	blood

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