Variant report

Variant	rs56984105
Chromosome Location	chr2:97405798-97405799
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	CREB1	chr2:97405554-97406123	A549	lung:	n/a	n/a
2	POLR2A	chr2:97405505-97406035	HCT-116	colon:	n/a	n/a
3	CEBPD	chr2:97405584-97405828	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:97405551-97406383	GM12892	blood:	n/a	n/a
5	YY1	chr2:97405470-97406129	HCT-116	colon:	n/a	chr2:97405769-97405781 chr2:97405806-97405820 chr2:97405512-97405521 chr2:97405515-97405524
6	MAX	chr2:97405561-97406053	K562	blood:	n/a	n/a
7	FOXA1	chr2:97405754-97406071	T-47D	breast:	n/a	n/a
8	RAD21	chr2:97405091-97406251	IMR90	lung:	n/a	n/a
9	YY1	chr2:97405410-97406140	SK-N-SH_RA	brain:	n/a	chr2:97405769-97405781 chr2:97405806-97405820 chr2:97405512-97405521 chr2:97405515-97405524
10	RAD21	chr2:97405198-97406239	Hela-S3	cervix:	n/a	n/a
11	SIN3A	chr2:97405397-97406217	GM12878	blood:	n/a	n/a
12	PBX3	chr2:97405498-97406171	SK-N-SH	brain:	n/a	chr2:97405902-97405911 chr2:97405824-97405833
13	TBL1XR1	chr2:97405523-97406364	GM12878	blood:	n/a	n/a
14	USF2	chr2:97405586-97406209	GM12878	blood:	n/a	n/a
15	SIX5	chr2:97405646-97406253	GM12878	blood:	n/a	chr2:97406012-97406026
16	POLR2A	chr2:97405537-97406304	GM12878	blood:	n/a	n/a
17	POLR2A	chr2:97405499-97406363	GM18505	blood:	n/a	n/a
18	MAZ	chr2:97405380-97406133	Hela-S3	cervix:	n/a	chr2:97405516-97405526
19	REST	chr2:97405213-97406433	H1-neurons	neurons:	n/a	chr2:97405472-97405485
20	BHLHE40	chr2:97405766-97406063	HepG2	liver:	n/a	n/a
21	YY1	chr2:97405423-97406075	ECC-1	luminal epithelium:	n/a	chr2:97405769-97405781 chr2:97405806-97405820 chr2:97405512-97405521 chr2:97405515-97405524
22	SIX5	chr2:97405590-97406389	A549	lung:	n/a	chr2:97406012-97406026
23	FOXA1	chr2:97405695-97406195	HepG2	liver:	n/a	n/a
24	MAX	chr2:97405212-97406404	A549	lung:	n/a	chr2:97405516-97405526
25	NFYA	chr2:97405602-97406223	Hela-S3	cervix:	n/a	chr2:97405899-97405914 chr2:97405900-97405914 chr2:97405899-97405914
26	EP300	chr2:97405680-97406364	K562	blood:	n/a	n/a
27	MAX	chr2:97405571-97406278	GM12878	blood:	n/a	n/a
28	POLR2A	chr2:97405474-97405961	Hela-S3	cervix:	n/a	n/a
29	SP1	chr2:97405549-97406251	H1-hESC	embryonic stem cell:	n/a	chr2:97405874-97405886 chr2:97405874-97405885 chr2:97405874-97405886 chr2:97405805-97405814 chr2:97405962-97405976 chr2:97405875-97405884 chr2:97405876-97405885 chr2:97405944-97405951 chr2:97405549-97405558
30	TAF1	chr2:97405550-97405834	GM12878	blood:	n/a	n/a
31	YY1	chr2:97405434-97406019	K562	blood:	n/a	chr2:97405769-97405781 chr2:97405806-97405820 chr2:97405512-97405521 chr2:97405515-97405524
32	POU2F2	chr2:97405723-97406166	GM12891	blood:	n/a	chr2:97405975-97405990 chr2:97405977-97405987 chr2:97405977-97405987 chr2:97405976-97405988 chr2:97405979-97405986 chr2:97405976-97405990 chr2:97405875-97405887 chr2:97405978-97405987
33	POLR2A	chr2:97405432-97406188	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr2:97405349-97405949	Hela-S3	cervix:	n/a	n/a
35	TAF1	chr2:97405555-97405864	GM12891	blood:	n/a	n/a
36	E2F6	chr2:97405720-97405915	K562	blood:	n/a	chr2:97405903-97405912
37	CREB1	chr2:97405619-97406290	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr2:97405564-97406304	NB4	blood:	n/a	n/a
39	TBP	chr2:97405586-97406378	GM12878	blood:	n/a	n/a
40	CTCF	chr2:97405446-97405849	K562	blood:	n/a	n/a
41	STAT1	chr2:97405713-97406289	GM12878	blood:	n/a	chr2:97405963-97405975
42	POLR2A	chr2:97405337-97406003	HepG2	liver:	n/a	n/a
43	YY1	chr2:97405509-97405995	GM12892	blood:	n/a	chr2:97405769-97405781 chr2:97405806-97405820 chr2:97405512-97405521 chr2:97405515-97405524
44	POLR2A	chr2:97405419-97405990	K562	blood:	n/a	n/a
45	MXI1	chr2:97405766-97406200	Hela-S3	cervix:	n/a	chr2:97405925-97405940
46	POLR2A	chr2:97405559-97406399	GM12891	blood:	n/a	n/a
47	SP1	chr2:97405597-97406200	GM12878	blood:	n/a	chr2:97405874-97405886 chr2:97405874-97405885 chr2:97405874-97405886 chr2:97405805-97405814 chr2:97405962-97405976 chr2:97405875-97405884 chr2:97405876-97405885 chr2:97405944-97405951
48	POLR2A	chr2:97405558-97406008	K562	blood:	n/a	n/a
49	POLR2A	chr2:97405524-97405874	K562	blood:	n/a	n/a
50	FOXA2	chr2:97405650-97406209	A549	lung:	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	chr2:97303356..97305240-chr2:97403490..97407519,4	MCF-7	breast:

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

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17119606	1.00[AMR][1000 genomes]
rs17119736	1.00[AMR][1000 genomes]
rs41530648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55806522	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57454641	1.00[AMR][1000 genomes]
rs57505323	1.00[AMR][1000 genomes]
rs57993098	1.00[AMR][1000 genomes]
rs58219990	1.00[AMR][1000 genomes]
rs59057644	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59657357	1.00[AMR][1000 genomes]
rs59881596	1.00[AMR][1000 genomes]
rs60242125	1.00[AMR][1000 genomes]
rs61745438	1.00[AMR][1000 genomes]
rs72941255	1.00[AMR][1000 genomes]
rs73960687	1.00[AMR][1000 genomes]
rs7593245	1.00[AMR][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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97404800-97406200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr2:97404800-97406200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:97404800-97406200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr2:97404800-97406200	Active TSS	Fetal Intestine Large	intestine
5	chr2:97404800-97406200	Active TSS	Fetal Kidney	kidney
6	chr2:97404800-97406200	Active TSS	Fetal Muscle Trunk	muscle
7	chr2:97404800-97406200	Active TSS	NHLF	lung
8	chr2:97404800-97406400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr2:97404800-97406400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:97404800-97406400	Active TSS	Psoas Muscle	Psoas
11	chr2:97404800-97406600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:97405000-97405800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:97405000-97405800	Active TSS	Gastric	stomach
14	chr2:97405000-97405800	Active TSS	Lung	lung
15	chr2:97405000-97406000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:97405000-97406000	Active TSS	Esophagus	oesophagus
17	chr2:97405000-97406000	Active TSS	Fetal Intestine Small	intestine
18	chr2:97405000-97406000	Active TSS	Pancreas	Pancrea
19	chr2:97405000-97406200	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr2:97405000-97406200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:97405000-97406200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:97405000-97406200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:97405000-97406200	Active TSS	A549	lung
24	chr2:97405000-97406400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr2:97405000-97406400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr2:97405000-97406400	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr2:97405000-97406400	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr2:97405000-97406400	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr2:97405000-97406400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr2:97405000-97406400	Active TSS	Aorta	Aorta
31	chr2:97405000-97406400	Active TSS	Ovary	ovary
32	chr2:97405000-97406400	Active TSS	Right Atrium	heart
33	chr2:97405000-97406400	Active TSS	GM12878-XiMat	blood
34	chr2:97405200-97405800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:97405200-97405800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:97405200-97405800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:97405200-97405800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:97405200-97405800	Active TSS	Placenta Amnion	Placenta Amnion
39	chr2:97405200-97405800	Active TSS	Small Intestine	intestine
40	chr2:97405200-97405800	Bivalent/Poised TSS	HepG2	liver
41	chr2:97405200-97406000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:97405200-97406000	Active TSS	Fetal Heart	heart
43	chr2:97405200-97406000	Active TSS	Left Ventricle	heart
44	chr2:97405200-97406000	Active TSS	HSMM	muscle
45	chr2:97405200-97406000	Active TSS	Osteobl	bone
46	chr2:97405200-97406200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:97405200-97406200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:97405200-97406200	Active TSS	Muscle Satellite Cultured Cells	--
49	chr2:97405200-97406200	Active TSS	Fetal Lung	lung
50	chr2:97405200-97406200	Active TSS	Fetal Muscle Leg	muscle

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