Variant report

Variant	rs72782606
Chromosome Location	chr2:9983213-9983214
allele	C/T
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	PBX3	chr2:9983124-9984027	SK-N-SH	brain:	n/a	n/a
2	PML	chr2:9983063-9984273	K562	blood:	n/a	n/a
3	ZBTB7A	chr2:9983178-9984151	K562	blood:	n/a	chr2:9983258-9983265
4	FOXA1	chr2:9983141-9984013	HepG2	liver:	n/a	n/a
5	KAP1	chr2:9982721-9984204	HEK293	kidney:	n/a	n/a
6	POLR2A	chr2:9983035-9984253	K562	blood:	n/a	n/a
7	GABPA	chr2:9982890-9984044	A549	lung:	n/a	chr2:9983539-9983553 chr2:9983542-9983553 chr2:9983542-9983551 chr2:9983542-9983556
8	TEAD4	chr2:9983151-9983846	HepG2	liver:	n/a	n/a
9	ELF1	chr2:9983146-9984177	GM12878	blood:	n/a	chr2:9983606-9983615
10	CCNT2	chr2:9983164-9984002	K562	blood:	n/a	n/a
11	SP1	chr2:9983125-9984451	A549	lung:	n/a	chr2:9983430-9983451 chr2:9984040-9984054
12	POLR2A	chr2:9983182-9983993	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr2:9983069-9984132	HCT-116	colon:	n/a	n/a
14	ETS1	chr2:9983106-9984148	K562	blood:	n/a	chr2:9983576-9983589 chr2:9983582-9983595
15	STAT1	chr2:9982982-9984204	Hela-S3	cervix:	n/a	chr2:9983604-9983613 chr2:9984040-9984052 chr2:9983603-9983614 chr2:9983599-9983619 chr2:9983599-9983619 chr2:9983605-9983613 chr2:9983909-9983921 chr2:9983597-9983609 chr2:9983605-9983614 chr2:9984046-9984058
16	ZBTB33	chr2:9983178-9983869	A549	lung:	n/a	n/a
17	CBX3	chr2:9982631-9984462	K562	blood:	n/a	n/a
18	TCF7L2	chr2:9982992-9983670	HEK293	kidney:	n/a	n/a
19	POLR2A	chr2:9983108-9984109	K562	blood:	n/a	n/a
20	POLR2A	chr2:9982941-9984260	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr2:9983160-9984376	U87	brain:	n/a	n/a
22	STAT1	chr2:9983166-9984000	K562	blood:	n/a	chr2:9983604-9983613 chr2:9983603-9983614 chr2:9983599-9983619 chr2:9983599-9983619 chr2:9983605-9983613 chr2:9983909-9983921 chr2:9983597-9983609 chr2:9983605-9983614
23	TEAD4	chr2:9983190-9984204	ECC-1	luminal epithelium:	n/a	n/a
24	HEY1	chr2:9983179-9984018	HepG2	liver:	n/a	chr2:9983540-9983555
25	ZC3H11A	chr2:9983205-9983897	K562	blood:	n/a	n/a
26	MAX	chr2:9982904-9984270	A549	lung:	n/a	chr2:9984044-9984054
27	HDAC2	chr2:9983149-9983877	H1-hESC	embryonic stem cell:	n/a	chr2:9983317-9983326 chr2:9983522-9983531
28	TCF7L2	chr2:9983121-9984573	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr2:9983131-9984050	HUVEC	blood vessel:	n/a	n/a
30	HDAC2	chr2:9983111-9984062	HepG2	liver:	n/a	chr2:9983317-9983326 chr2:9983522-9983531
31	CEBPD	chr2:9983000-9983554	HepG2	liver:	n/a	n/a
32	MYBL2	chr2:9983000-9984130	HepG2	liver:	n/a	n/a
33	TAF1	chr2:9983097-9984159	ECC-1	luminal epithelium:	n/a	n/a
34	GATA2	chr2:9982933-9984609	SH-SY5Y	brain:	n/a	n/a
35	GABPA	chr2:9983144-9984260	SK-N-SH	brain:	n/a	chr2:9983539-9983553 chr2:9983542-9983553 chr2:9983542-9983551 chr2:9983542-9983556
36	POLR2A	chr2:9983123-9984291	GM15510	blood:	n/a	n/a
37	PML	chr2:9982849-9984141	GM12878	blood:	n/a	n/a
38	TAF1	chr2:9983162-9983769	SK-N-SH	brain:	n/a	n/a
39	E2F6	chr2:9983169-9984073	A549	lung:	n/a	chr2:9983543-9983552
40	SRF	chr2:9983148-9984081	ECC-1	luminal epithelium:	n/a	chr2:9984048-9984058
41	TAF1	chr2:9983148-9984164	H1-hESC	embryonic stem cell:	n/a	n/a
42	GABPA	chr2:9983050-9984108	MCF-7	breast:	n/a	chr2:9983539-9983553 chr2:9983542-9983553 chr2:9983542-9983551 chr2:9983542-9983556
43	POLR2A	chr2:9983209-9984008	A549	lung:	n/a	n/a
44	HNF4G	chr2:9983064-9983840	HepG2	liver:	n/a	n/a
45	MAX	chr2:9983077-9984592	SK-N-SH	brain:	n/a	chr2:9984044-9984054
46	MXI1	chr2:9982216-9985161	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr2:9983145-9984009	GM12891	blood:	n/a	n/a
48	MAZ	chr2:9983207-9984099	Hela-S3	cervix:	n/a	chr2:9984044-9984054
49	POLR2A	chr2:9982770-9984174	HepG2	liver:	n/a	n/a
50	RELA	chr2:9983182-9984300	GM19099	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:9983211-9983261	MCF-7	breast:	n/a
2	chr2:9983211-9983261	SK-N-SH_RA	brain:	n/a
3	chr2:9983211-9983261	SK-N-SH	brain:	n/a
4	chr2:9983211-9983261	ECC-1	luminal epithelium:	n/a
5	chr2:9983211-9983261	ProgFib	skin:	n/a
6	chr2:9983211-9983261	GM06990	blood:	n/a
7	chr2:9983211-9983261	AG04450	lung:	fetal
8	chr2:9983211-9983261	HCF	heart:	n/a
9	chr2:9983211-9983261	PrEC	prostate:	n/a
10	chr2:9983211-9983261	GM19239	blood:	n/a
11	chr2:9983211-9983261	HAEpiC	amniotic membrane:	n/a
12	chr2:9983211-9983261	GM12878	blood:	n/a
13	chr2:9983211-9983261	PANC-1	pancreas:	n/a
14	chr2:9983211-9983261	NT2-D1	testis:	n/a
15	chr2:9983211-9983261	SKMC	muscle:	n/a
16	chr2:9983211-9983261	AoSMC	blood vessel:	n/a
17	chr2:9983211-9983261	HRPEpiC	eye:	n/a
18	chr2:9983211-9983261	Caco-2	colon:	n/a
19	chr2:9983211-9983261	HIPEpiC	eye:	n/a
20	chr2:9983211-9983261	A549	lung:	n/a
21	chr2:9983211-9983261	HL-60	blood:	n/a
22	chr2:9983211-9983261	U87	brain:	n/a
23	chr2:9983211-9983261	Hepatocyte	liver:	n/a
24	chr2:9983211-9983261	GM12891	blood:	n/a
25	chr2:9983211-9983261	NB4	blood:	n/a
26	chr2:9983211-9983261	CMK	blood:	n/a
27	chr2:9983211-9983261	AG09319	gingival:	n/a
28	chr2:9983211-9983261	NHDF-neo	bronchial:	n/a
29	chr2:9983211-9983261	HCPEpiC	choroid plexus:	n/a
30	chr2:9983211-9983261	PFSK-1	brain:	n/a
31	chr2:9983211-9983261	K562	blood:	n/a
32	chr2:9983211-9983261	HepG2	liver:	n/a
33	chr2:9983211-9983261	HCM	heart:	n/a
34	chr2:9983211-9983261	H1-hESC	embryonic stem cell:	embryo
35	chr2:9983211-9983261	HNPCEpiC	eye:	n/a
36	chr2:9983211-9983261	T-47D	breast:	n/a
37	chr2:9983211-9983261	HMEC	breast:	n/a
38	chr2:9983211-9983261	HCT-116	colon:	n/a
39	chr2:9983211-9983261	Hela-S3	cervix:	n/a
40	chr2:9983211-9983261	SK-N-MC	brain:	n/a
41	chr2:9983211-9983261	Jurkat	blood:	n/a
42	chr2:9983211-9983261	HRCEpiC	kidney:	n/a
43	chr2:9983211-9983261	AG04449	skin:	fetal
44	chr2:9983211-9983261	HUVEC	blood vessel:	n/a
45	chr2:9983211-9983261	BJ	skin:	n/a
46	chr2:9983211-9983261	HRE	kidney:	n/a
47	chr2:9983211-9983261	NH-A	brain:	n/a
48	chr2:9983211-9983261	AG09309	skin:	n/a
49	chr2:9983211-9983261	IMR90	lung:	fetal
50	chr2:9983211-9983261	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:16682799..16683351-chr2:9982770..9983539,2	HCT-116	colon:
2	chr2:9983066..9987186-chr2:10091615..10095343,4	MCF-7	breast:
3	chr12:4757537..4758351-chr2:9983167..9983703,2	Hela-S3	cervix:
4	chr1:225117101..225117940-chr2:9982915..9983806,2	Hela-S3	cervix:
5	chr2:9981740..9985209-chr2:10182518..10185707,4	K562	blood:
6	chr10:76969734..76970322-chr2:9983044..9983554,2	NB4	blood:
7	chr2:9981933..9984802-chr2:10182812..10185710,3	K562	blood:
8	chr2:9982271..9986804-chr2:10090021..10093067,7	K562	blood:
9	chr2:9982517..9985169-chr2:10586715..10588876,2	K562	blood:
10	chr2:9945778..9947307-chr2:9981778..9983371,2	K562	blood:
11	chr2:9982957..9983900-chr3:149530307..149531181,2	Hela-S3	cervix:
12	chr2:9982092..9985559-chr2:10088577..10093200,6	MCF-7	breast:
13	chr2:9982271..9985181-chr2:10090033..10093358,4	K562	blood:
14	chr2:9981748..9983787-chr2:10179341..10181254,2	K562	blood:

Variant related genes	Relation type
TAF1B	TF binding region
TAF1B	CpG island
ENSG00000185842	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000082996	Chromatin interaction
ENSG00000139180	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000127526	Chromatin interaction
ENSG00000260077	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000111254	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000165637	Chromatin interaction
ENSG00000257135	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16867188	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs16867193	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16867245	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4669503	0.80[EUR][1000 genomes]
rs9752674	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv873628	chr2:9949464-9985670	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
5	nsv873629	chr2:9949464-10016627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
6	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
7	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
8	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9982600-9983400	Flanking Active TSS	Dnd41	blood
2	chr2:9982600-9984200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:9982800-9983400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:9982800-9983400	Flanking Bivalent TSS/Enh	HepG2	liver
5	chr2:9982800-9983400	Flanking Active TSS	NHDF-Ad	bronchial
6	chr2:9982800-9984000	Active TSS	Liver	Liver
7	chr2:9982800-9984200	Active TSS	Brain Cingulate Gyrus	brain
8	chr2:9982800-9984200	Active TSS	Brain Hippocampus Middle	brain
9	chr2:9982800-9984200	Active TSS	Stomach Smooth Muscle	stomach
10	chr2:9982800-9984400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:9982800-9984400	Active TSS	Brain Anterior Caudate	brain
12	chr2:9982800-9984400	Active TSS	Fetal Brain Female	brain
13	chr2:9982800-9984600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr2:9982800-9984600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:9982800-9984600	Active TSS	K562	blood
16	chr2:9982800-9984600	Active TSS	NH-A	brain
17	chr2:9982800-9984800	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr2:9982800-9984800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:9982800-9984800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:9982800-9985200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:9982800-9985200	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr2:9983000-9983400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:9983000-9983400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:9983000-9983400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr2:9983000-9983400	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr2:9983000-9983400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr2:9983000-9983400	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr2:9983000-9983400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr2:9983000-9983400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr2:9983000-9983400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr2:9983000-9983400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr2:9983000-9983400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:9983000-9983400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr2:9983000-9983400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:9983000-9983400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr2:9983000-9983400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:9983000-9983400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr2:9983000-9983400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:9983000-9983400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:9983000-9983400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:9983000-9983400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr2:9983000-9983400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:9983000-9983400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:9983000-9983400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:9983000-9983400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:9983000-9983400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr2:9983000-9983400	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr2:9983000-9983400	Flanking Active TSS	Fetal Brain Male	brain
49	chr2:9983000-9983400	Flanking Active TSS	Fetal Muscle Trunk	muscle
50	chr2:9983000-9983400	Flanking Active TSS	Fetal Muscle Leg	muscle

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