Variant report

Variant	rs57555186
Chromosome Location	chr3:48673087-48673088
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	NFYA	chr3:48672751-48673160	K562	blood:	n/a	chr3:48672961-48672973 chr3:48672962-48672976 chr3:48672962-48672977 chr3:48672962-48672980 chr3:48672962-48672977
2	CTCF	chr3:48672729-48673491	GM12892	blood:	n/a	chr3:48673315-48673328 chr3:48672884-48672900
3	MAZ	chr3:48672120-48673490	K562	blood:	n/a	chr3:48672634-48672644
4	TAF1	chr3:48672652-48673230	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr3:48672760-48673231	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:48672030-48673534	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr3:48672179-48673263	Gliobla	brain:	n/a	n/a
8	HCFC1	chr3:48671808-48673623	Hela-S3	cervix:	n/a	n/a
9	MYC	chr3:48672738-48673452	K562	blood:	n/a	n/a
10	POLR2A	chr3:48672136-48673338	K562	blood:	n/a	n/a
11	POLR2A	chr3:48672287-48673323	HepG2	liver:	n/a	n/a
12	SP1	chr3:48672215-48673514	A549	lung:	n/a	chr3:48672979-48672991 chr3:48672637-48672649 chr3:48672980-48672989 chr3:48672980-48672990 chr3:48672981-48672990 chr3:48672632-48672646 chr3:48672346-48672358 chr3:48672346-48672358 chr3:48672979-48672991 chr3:48672631-48672643 chr3:48672981-48672990 chr3:48672368-48672380 chr3:48672633-48672642 chr3:48672963-48672984
13	TBP	chr3:48672779-48673197	GM12878	blood:	n/a	n/a
14	CTCF	chr3:48673027-48673450	Hela-S3	cervix:	n/a	chr3:48673315-48673328
15	NRF1	chr3:48672751-48673177	GM12878	blood:	n/a	n/a
16	MAZ	chr3:48672228-48673456	Hela-S3	cervix:	n/a	chr3:48672634-48672644
17	RAD21	chr3:48672831-48673448	A549	lung:	n/a	chr3:48673158-48673168 chr3:48673311-48673330 chr3:48673315-48673329
18	ZC3H11A	chr3:48673020-48673343	K562	blood:	n/a	n/a
19	MXI1	chr3:48672682-48673519	GM12878	blood:	n/a	n/a
20	POLR2A	chr3:48672210-48673264	MCF-7	breast:	n/a	n/a
21	FOSL2	chr3:48672665-48673509	HepG2	liver:	n/a	chr3:48672966-48672975
22	RCOR1	chr3:48672875-48673293	K562	blood:	n/a	n/a
23	HMGN3	chr3:48672428-48673436	K562	blood:	n/a	n/a
24	ELK1	chr3:48672765-48673180	GM12878	blood:	n/a	n/a
25	POLR2A	chr3:48672204-48673674	GM12878	blood:	n/a	n/a
26	CTCF	chr3:48672765-48673468	NHEK	skin:	n/a	chr3:48673315-48673328 chr3:48672884-48672900
27	CTCF	chr3:48672719-48673505	K562	blood:	n/a	chr3:48673315-48673328 chr3:48672884-48672900
28	SP1	chr3:48672593-48673579	GM12878	blood:	n/a	chr3:48672979-48672991 chr3:48672637-48672649 chr3:48672980-48672989 chr3:48672980-48672990 chr3:48672981-48672990 chr3:48672632-48672646 chr3:48672979-48672991 chr3:48672631-48672643 chr3:48672981-48672990 chr3:48672633-48672642 chr3:48672963-48672984
29	EP300	chr3:48672789-48673373	K562	blood:	n/a	chr3:48673132-48673148 chr3:48672892-48672901 chr3:48672972-48672988
30	CTCF	chr3:48672721-48673444	HepG2	liver:	n/a	chr3:48673315-48673328 chr3:48672884-48672900
31	POU2F2	chr3:48672617-48673296	GM12878	blood:	n/a	chr3:48672650-48672662 chr3:48672978-48672990
32	POLR2A	chr3:48672563-48673374	PANC-1	pancreas:	n/a	n/a
33	FOS	chr3:48672812-48673375	K562	blood:	n/a	chr3:48672966-48672975
34	RCOR1	chr3:48672688-48673517	K562	blood:	n/a	n/a
35	ZNF143	chr3:48672621-48673418	Hela-S3	cervix:	n/a	chr3:48673135-48673145
36	CHD2	chr3:48672595-48673546	H1-hESC	embryonic stem cell:	n/a	chr3:48672629-48672639 chr3:48673006-48673016 chr3:48673078-48673088
37	CTCF	chr3:48672048-48673737	SK-N-SH	brain:	n/a	chr3:48672369-48672382 chr3:48673315-48673328 chr3:48672884-48672900
38	POLR2A	chr3:48672628-48673493	K562	blood:	n/a	n/a
39	YY1	chr3:48672683-48673166	K562	blood:	n/a	chr3:48672886-48672900 chr3:48672892-48672906 chr3:48672892-48672901
40	POLR2A	chr3:48672041-48673703	H1-hESC	embryonic stem cell:	n/a	n/a
41	FOS	chr3:48672896-48673172	MCF10A-Er-Src	breast:	n/a	chr3:48672966-48672975
42	POLR2A	chr3:48672680-48673326	GM10847	blood:	n/a	n/a
43	POLR2A	chr3:48672220-48673411	U87	brain:	n/a	n/a
44	BHLHE40	chr3:48672714-48673457	HepG2	liver:	n/a	chr3:48673090-48673106 chr3:48673136-48673152
45	TCF12	chr3:48672427-48673408	A549	lung:	n/a	chr3:48672915-48672925 chr3:48672914-48672921
46	STAT5A	chr3:48672921-48673463	GM12878	blood:	n/a	chr3:48673229-48673240
47	MAX	chr3:48672381-48673459	Hela-S3	cervix:	n/a	chr3:48672634-48672644
48	POLR2A	chr3:48672173-48673390	PBDE	blood:	n/a	n/a
49	RAD21	chr3:48672755-48673488	H1-hESC	embryonic stem cell:	n/a	chr3:48673158-48673168 chr3:48673311-48673330 chr3:48673315-48673329
50	MYBL2	chr3:48672651-48673642	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:48673083-48673133	K562	blood:	n/a
2	chr3:48673083-48673133	IMR90	lung:	fetal
3	chr3:48673087-48673137	NHBE	bronchial:	n/a
4	chr3:48673083-48673133	RPTEC	kidney:	n/a
5	chr3:48673083-48673133	GM12891	blood:	n/a
6	chr3:48673083-48673133	Caco-2	colon:	n/a
7	chr3:48673087-48673137	SK-N-SH	brain:	n/a
8	chr3:48673083-48673133	GM12892	blood:	n/a
9	chr3:48673083-48673133	MCF-7	breast:	n/a
10	chr3:48673083-48673133	ovcar-3	ovarian:	n/a
11	chr3:48673083-48673133	HRPEpiC	eye:	n/a
12	chr3:48673087-48673137	Jurkat	blood:	n/a
13	chr3:48673087-48673137	RPTEC	kidney:	n/a
14	chr3:48673083-48673133	PrEC	prostate:	n/a
15	chr3:48673083-48673133	PFSK-1	brain:	n/a
16	chr3:48673083-48673133	HUVEC	blood vessel:	n/a
17	chr3:48673087-48673137	T-47D	breast:	n/a
18	chr3:48673083-48673133	SAEC	small airway:	n/a
19	chr3:48673087-48673137	HAEpiC	amniotic membrane:	n/a
20	chr3:48673083-48673133	MCF10A-Er-Src	breast:	n/a
21	chr3:48673087-48673137	HIPEpiC	eye:	n/a
22	chr3:48673083-48673133	T-47D	breast:	n/a
23	chr3:48673083-48673133	PANC-1	pancreas:	n/a
24	chr3:48673087-48673137	AG09319	gingival:	n/a
25	chr3:48673083-48673133	HPAEpiC	pulmonary alveolar:	n/a
26	chr3:48673087-48673137	AoSMC	blood vessel:	n/a
27	chr3:48673083-48673133	HCF	heart:	n/a
28	chr3:48673083-48673133	SK-N-SH	brain:	n/a
29	chr3:48673083-48673133	HMEC	breast:	n/a
30	chr3:48673083-48673133	ProgFib	skin:	n/a
31	chr3:48673083-48673133	HL-60	blood:	n/a
32	chr3:48673087-48673137	PrEC	prostate:	n/a
33	chr3:48673087-48673137	HEEpiC	esophagus:	n/a
34	chr3:48673083-48673133	H1-hESC	embryonic stem cell:	embryo
35	chr3:48673083-48673133	Hepatocyte	liver:	n/a
36	chr3:48673083-48673133	NHBE	bronchial:	n/a
37	chr3:48673087-48673137	GM12878	blood:	n/a
38	chr3:48673087-48673137	HEK293	kidney:	embryo
39	chr3:48673087-48673137	MCF-7	breast:	n/a
40	chr3:48673083-48673133	BJ	skin:	n/a
41	chr3:48673083-48673133	ECC-1	luminal epithelium:	n/a
42	chr3:48673083-48673133	NB4	blood:	n/a
43	chr3:48673087-48673137	AG04450	lung:	fetal
44	chr3:48673083-48673133	CMK	blood:	n/a
45	chr3:48673087-48673137	Hepatocyte	liver:	n/a
46	chr3:48673083-48673133	HCT-116	colon:	n/a
47	chr3:48673087-48673137	IMR90	lung:	fetal
48	chr3:48673087-48673137	SK-N-SH_RA	brain:	n/a
49	chr3:48673087-48673137	AG04449	skin:	fetal
50	chr3:48673083-48673133	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:48673016..48675610-chr3:48677964..48680393,2	K562	blood:
2	chr3:48644319..48649140-chr3:48667292..48673836,7	K562	blood:
3	chr3:48592797..48594664-chr3:48671142..48674033,2	MCF-7	breast:
4	chr3:48671184..48673366-chr3:48722826..48724747,2	K562	blood:
5	chr3:48647115..48647678-chr3:48672559..48673379,2	MCF-7	breast:
6	chr3:48593498..48596370-chr3:48671883..48674161,2	K562	blood:
7	chr3:48670869..48673258-chr3:48680752..48682540,2	K562	blood:
8	chr3:48672989..48673806-chr3:48723405..48723940,2	K562	blood:
9	chr3:48670764..48674544-chr3:48698929..48702803,9	K562	blood:
10	chr3:48645687..48647354-chr3:48671015..48673103,2	MCF-7	breast:
11	chr3:48670764..48674544-chr3:48699167..48702803,6	K562	blood:
12	chr3:48671382..48674659-chr3:48676453..48680538,5	MCF-7	breast:
13	chr3:48631986..48633856-chr3:48672080..48674450,2	K562	blood:
14	chr3:48672340..48673295-chr7:26239951..26240659,2	Hela-S3	cervix:
15	chr3:48641673..48644998-chr3:48670911..48673807,4	K562	blood:
16	chr3:48669740..48673837-chr3:48676132..48680334,3	MCF-7	breast:
17	chr3:48631939..48633856-chr3:48671693..48673580,2	K562	blood:
18	chr3:48670997..48674874-chr3:48698947..48702118,7	MCF-7	breast:
19	chr3:48667529..48675453-chr3:48697968..48703139,10	MCF-7	breast:
20	chr3:48594423..48596370-chr3:48671883..48674168,2	K562	blood:
21	chr3:48670890..48672785-chr3:48672866..48675614,2	MCF-7	breast:
22	chr3:48594247..48597141-chr3:48671392..48674077,2	MCF-7	breast:

Variant related genes	Relation type
SLC26A6	TF binding region
SLC26A6	CpG island
ENSG00000263898	Chromatin interaction
ENSG00000213672	Chromatin interaction
ENSG00000122566	Chromatin interaction
ENSG00000114268	Chromatin interaction
ENSG00000225697	Chromatin interaction
ENSG00000228350	Chromatin interaction
ENSG00000010256	Chromatin interaction
ENSG00000008300	Chromatin interaction
ENSG00000114270	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60636203	1.00[AMR][1000 genomes]
rs73830470	1.00[AMR][1000 genomes]
rs73830472	1.00[AMR][1000 genomes]
rs73830473	1.00[AMR][1000 genomes]
rs73830477	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS 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	49 gene(s)	inside rSNPs	diseases
6	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS 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	47 gene(s)	inside rSNPs	diseases
7	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv3430072	chr3:48668048-48673146	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	14 gene(s)	inside rSNPs	diseases
9	nsv876763	chr3:48669648-48710310	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 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	chr3:48670000-48673200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:48671400-48673600	Active TSS	Gastric	stomach
3	chr3:48671400-48674400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
4	chr3:48671600-48674200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr3:48671800-48673600	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:48671800-48673800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr3:48671800-48673800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr3:48671800-48674000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr3:48671800-48674000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:48671800-48674000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr3:48671800-48674000	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr3:48672000-48673200	Active TSS	Placenta Amnion	Placenta Amnion
13	chr3:48672000-48673200	Active TSS	HMEC	breast
14	chr3:48672000-48673400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:48672000-48673400	Active TSS	A549	lung
16	chr3:48672000-48673600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr3:48672000-48673600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:48672000-48673600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr3:48672000-48673600	Flanking Active TSS	Liver	Liver
20	chr3:48672000-48673600	Active TSS	Fetal Kidney	kidney
21	chr3:48672000-48673800	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr3:48672000-48673800	Active TSS	Aorta	Aorta
23	chr3:48672000-48673800	Active TSS	NHDF-Ad	bronchial
24	chr3:48672000-48674000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr3:48672000-48674000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr3:48672000-48674200	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr3:48672000-48674200	Active TSS	H9 Cell Line	embryonic stem cell
28	chr3:48672000-48674200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr3:48672200-48673200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:48672200-48673200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:48672200-48673200	Active TSS	Thymus	Thymus
32	chr3:48672200-48673200	Active TSS	Osteobl	bone
33	chr3:48672200-48673400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:48672200-48673400	Active TSS	Muscle Satellite Cultured Cells	--
35	chr3:48672200-48673400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
36	chr3:48672200-48673400	Active TSS	Esophagus	oesophagus
37	chr3:48672200-48673400	Active TSS	Fetal Intestine Large	intestine
38	chr3:48672200-48673400	Active TSS	Ovary	ovary
39	chr3:48672200-48673400	Active TSS	Psoas Muscle	Psoas
40	chr3:48672200-48673400	Active TSS	Stomach Mucosa	stomach
41	chr3:48672200-48673400	Active TSS	GM12878-XiMat	blood
42	chr3:48672200-48673400	Active TSS	HepG2	liver
43	chr3:48672200-48673400	Active TSS	HSMMtube	muscle
44	chr3:48672200-48673400	Active TSS	K562	blood
45	chr3:48672200-48673400	Active TSS	NHEK	skin
46	chr3:48672200-48673400	Active TSS	NHLF	lung
47	chr3:48672200-48673600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:48672200-48673600	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr3:48672200-48673600	Active TSS	Fetal Heart	heart
50	chr3:48672200-48673600	Active TSS	Lung	lung

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