Variant report

Variant	rs7519942
Chromosome Location	chr1:209825948-209825949
allele	C/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	ZNF143	chr1:209825727-209826769	Hela-S3	cervix:	n/a	chr1:209826464-209826482 chr1:209825904-209825922
2	CEBPB	chr1:209825702-209826724	Hela-S3	cervix:	n/a	n/a
3	TCF7L2	chr1:209825609-209826785	Hela-S3	cervix:	n/a	chr1:209826488-209826497
4	MAFK	chr1:209825552-209826745	Hela-S3	cervix:	n/a	chr1:209826104-209826118 chr1:209826106-209826117 chr1:209826105-209826116 chr1:209826105-209826116 chr1:209826106-209826117
5	MAZ	chr1:209825568-209826855	Hela-S3	cervix:	n/a	chr1:209826529-209826539
6	SMARCB1	chr1:209824459-209826866	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:209825255-209826864	HCT-116	colon:	n/a	n/a
8	SMC3	chr1:209825675-209826859	Hela-S3	cervix:	n/a	chr1:209826123-209826137
9	POLR2A	chr1:209825278-209826853	Hela-S3	cervix:	n/a	n/a
10	MXI1	chr1:209825688-209826761	Hela-S3	cervix:	n/a	n/a
11	ZEB1	chr1:209825547-209825952	GM12878	blood:	n/a	chr1:209825589-209825596
12	POLR2A	chr1:209824341-209826797	Hela-S3	cervix:	n/a	n/a
13	FOXM1	chr1:209825562-209827018	ECC-1	luminal epithelium:	n/a	n/a
14	TBP	chr1:209825644-209826727	Hela-S3	cervix:	n/a	n/a
15	EP300	chr1:209825736-209825983	Hela-S3	cervix:	n/a	n/a
16	TAF1	chr1:209825562-209826057	Hela-S3	cervix:	n/a	n/a
17	RCOR1	chr1:209825437-209826768	Hela-S3	cervix:	n/a	n/a
18	E2F4	chr1:209825680-209826713	MCF10A-Er-Src	breast:	n/a	n/a
19	MAX	chr1:209825592-209826955	ECC-1	luminal epithelium:	n/a	chr1:209826529-209826539
20	POLR2A	chr1:209823635-209826810	Hela-S3	cervix:	n/a	n/a
21	SP1	chr1:209825413-209827073	HCT-116	colon:	n/a	chr1:209826528-209826540 chr1:209826528-209826540
22	BRCA1	chr1:209825711-209826715	Hela-S3	cervix:	n/a	n/a
23	NFIC	chr1:209825535-209827042	ECC-1	luminal epithelium:	n/a	chr1:209826454-209826471
24	ZBTB7A	chr1:209825560-209827288	ECC-1	luminal epithelium:	n/a	n/a
25	MAX	chr1:209825620-209826765	Hela-S3	cervix:	n/a	chr1:209826529-209826539
26	JUND	chr1:209825682-209826714	Hela-S3	cervix:	n/a	chr1:209825785-209825799 chr1:209826487-209826497 chr1:209826486-209826497 chr1:209826487-209826497 chr1:209826484-209826495
27	SMARCC2	chr1:209825323-209826917	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr1:209825752-209825959	MCF10A-Er-Src	breast:	n/a	n/a
29	SRF	chr1:209825716-209826824	ECC-1	luminal epithelium:	n/a	chr1:209826342-209826355 chr1:209826344-209826358 chr1:209826343-209826357
30	POLR2A	chr1:209825537-209826096	HCT-116	colon:	n/a	n/a
31	FOSL1	chr1:209825555-209826965	HCT-116	colon:	n/a	chr1:209825785-209825799 chr1:209826487-209826497 chr1:209826487-209826497 chr1:209826484-209826495
32	SP1	chr1:209825324-209827797	HCT-116	colon:	n/a	chr1:209826528-209826540 chr1:209826528-209826540 chr1:209827536-209827550
33	REST	chr1:209825909-209826783	HL-60	blood:	n/a	chr1:209826262-209826282 chr1:209826262-209826276
34	FOS	chr1:209825674-209826005	MCF10A-Er-Src	breast:	n/a	chr1:209825785-209825799
35	FOS	chr1:209825784-209826027	MCF10A-Er-Src	breast:	n/a	chr1:209825785-209825799
36	TEAD4	chr1:209825591-209826150	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr1:209823641-209826800	Hela-S3	cervix:	n/a	n/a
38	STAT3	chr1:209825715-209826714	MCF10A-Er-Src	breast:	n/a	chr1:209826067-209826079 chr1:209826543-209826551
39	REST	chr1:209825908-209826737	A549	lung:	n/a	chr1:209826262-209826282 chr1:209826262-209826276
40	MYC	chr1:209825731-209826772	MCF10A-Er-Src	breast:	n/a	chr1:209826529-209826539
41	CHD2	chr1:209825518-209826080	Hela-S3	cervix:	n/a	n/a
42	ZBTB7A	chr1:209825692-209826215	ECC-1	luminal epithelium:	n/a	n/a
43	TFAP2C	chr1:209825422-209826835	Hela-S3	cervix:	n/a	n/a
44	REST	chr1:209825881-209826552	Hela-S3	cervix:	n/a	chr1:209826262-209826282 chr1:209826262-209826276
45	REST	chr1:209825860-209826635	ECC-1	luminal epithelium:	n/a	chr1:209826262-209826282 chr1:209826262-209826276
46	MYC	chr1:209825720-209826727	MCF10A-Er-Src	breast:	n/a	chr1:209826529-209826539
47	CTCF	chr1:209825940-209826090	A549	lung:	n/a	chr1:209825982-209825995
48	POLR2A	chr1:209825418-209826804	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr1:209822652-209827741	MCF10A-Er-Src	breast:	n/a	n/a
50	STAT3	chr1:209825686-209826772	MCF10A-Er-Src	breast:	n/a	chr1:209826067-209826079 chr1:209826543-209826551

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:209825943-209825993	HUVEC	blood vessel:	n/a
2	chr1:209825943-209825993	HL-60	blood:	n/a
3	chr1:209825943-209825993	CMK	blood:	n/a
4	chr1:209825943-209825993	SAEC	small airway:	n/a
5	chr1:209825943-209825993	BE2_C	brain:	n/a
6	chr1:209825943-209825993	HNPCEpiC	eye:	n/a
7	chr1:209825943-209825993	LNCaP	prostate:	n/a
8	chr1:209825943-209825993	HIPEpiC	eye:	n/a
9	chr1:209825943-209825993	PANC-1	pancreas:	n/a
10	chr1:209825943-209825993	T-47D	breast:	n/a
11	chr1:209825943-209825993	HMEC	breast:	n/a
12	chr1:209825943-209825993	AG04449	skin:	fetal
13	chr1:209825943-209825993	AoSMC	blood vessel:	n/a
14	chr1:209825943-209825993	U87	brain:	n/a
15	chr1:209825943-209825993	ProgFib	skin:	n/a
16	chr1:209825943-209825993	SK-N-SH_RA	brain:	n/a
17	chr1:209825943-209825993	GM19239	blood:	n/a
18	chr1:209825943-209825993	SKMC	muscle:	n/a
19	chr1:209825943-209825993	H1-hESC	embryonic stem cell:	embryo
20	chr1:209825943-209825993	HRE	kidney:	n/a
21	chr1:209825943-209825993	IMR90	lung:	fetal
22	chr1:209825943-209825993	HRPEpiC	eye:	n/a
23	chr1:209825943-209825993	GM12878	blood:	n/a
24	chr1:209825943-209825993	Hepatocyte	liver:	n/a
25	chr1:209825943-209825993	PFSK-1	brain:	n/a
26	chr1:209825943-209825993	SK-N-MC	brain:	n/a
27	chr1:209825943-209825993	HEEpiC	esophagus:	n/a
28	chr1:209825943-209825993	GM06990	blood:	n/a
29	chr1:209825943-209825993	HCT-116	colon:	n/a
30	chr1:209825943-209825993	A549	lung:	n/a
31	chr1:209825943-209825993	BJ	skin:	n/a
32	chr1:209825943-209825993	NH-A	brain:	n/a
33	chr1:209825943-209825993	MCF10A-Er-Src	breast:	n/a
34	chr1:209825943-209825993	NHDF-neo	bronchial:	n/a
35	chr1:209825943-209825993	SK-N-SH	brain:	n/a
36	chr1:209825943-209825993	NB4	blood:	n/a
37	chr1:209825943-209825993	AG10803	skin:	n/a
38	chr1:209825943-209825993	PrEC	prostate:	n/a
39	chr1:209825943-209825993	Caco-2	colon:	n/a
40	chr1:209825943-209825993	AG09309	skin:	n/a
41	chr1:209825943-209825993	GM12891	blood:	n/a
42	chr1:209825943-209825993	K562	blood:	n/a
43	chr1:209825943-209825993	HepG2	liver:	n/a
44	chr1:209825943-209825993	HPAEpiC	pulmonary alveolar:	n/a
45	chr1:209825943-209825993	ECC-1	luminal epithelium:	n/a
46	chr1:209825943-209825993	AG09319	gingival:	n/a
47	chr1:209825943-209825993	AG04450	lung:	fetal
48	chr1:209825943-209825993	HRCEpiC	kidney:	n/a
49	chr1:209825943-209825993	MCF-7	breast:	n/a
50	chr1:209825943-209825993	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:209825573..209826222-chr17:79828452..79829387,2	Hela-S3	cervix:
2	chr1:209825853..209828050-chr1:209999814..210002680,2	MCF-7	breast:
3	chr1:209825389..209826098-chr16:57835869..57836736,2	Hela-S3	cervix:

Variant related genes	Relation type
LAMB3	TF binding region
LAMB3	CpG island
ENSG00000141522	Chromatin interaction
ENSG00000140859	Chromatin interaction
ENSG00000117597	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs10779510	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription 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 miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	esv2762140	chr1:209816331-209830347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209814600-209826800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:209817800-209826000	Weak transcription	Brain Angular Gyrus	brain
3	chr1:209818000-209826000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr1:209818200-209826000	Weak transcription	Brain Substantia Nigra	brain
5	chr1:209819200-209827400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:209819200-209831200	Enhancers	Pancreas	Pancrea
7	chr1:209820400-209826200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:209820800-209826000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:209821000-209826200	Weak transcription	Fetal Brain Male	brain
10	chr1:209821600-209828000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:209822600-209827200	Enhancers	HSMMtube	muscle
12	chr1:209823000-209826400	Weak transcription	Psoas Muscle	Psoas
13	chr1:209823000-209836200	Weak transcription	Ovary	ovary
14	chr1:209823200-209826000	Weak transcription	Fetal Kidney	kidney
15	chr1:209823200-209826200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:209823400-209826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:209823400-209827000	Enhancers	Adipose Nuclei	Adipose
18	chr1:209823400-209827200	Weak transcription	Gastric	stomach
19	chr1:209824000-209828000	Enhancers	GM12878-XiMat	blood
20	chr1:209824200-209826400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:209824200-209827000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:209824200-209827800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:209824400-209826000	Weak transcription	Liver	Liver
24	chr1:209824400-209826600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:209824400-209827000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:209824400-209827000	Flanking Active TSS	Hela-S3	cervix
27	chr1:209824600-209826000	Weak transcription	Fetal Lung	lung
28	chr1:209824600-209826200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr1:209824600-209826400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:209824800-209826000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:209824800-209826000	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:209824800-209826000	Active TSS	Fetal Stomach	stomach
33	chr1:209824800-209826200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:209824800-209826200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:209824800-209826200	Active TSS	Rectal Smooth Muscle	rectum
36	chr1:209824800-209826600	Active TSS	HMEC	breast
37	chr1:209824800-209827000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:209824800-209827600	Weak transcription	Small Intestine	intestine
39	chr1:209825000-209826000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:209825000-209826000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:209825000-209826000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr1:209825000-209826000	Weak transcription	Brain Anterior Caudate	brain
43	chr1:209825000-209826000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr1:209825000-209826000	Active TSS	Fetal Intestine Large	intestine
45	chr1:209825000-209826200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:209825000-209826200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:209825000-209826200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:209825000-209826200	Active TSS	Placenta Amnion	Placenta Amnion
49	chr1:209825000-209826200	Weak transcription	Right Ventricle	heart
50	chr1:209825000-209826400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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