Variant report

Variant	rs529686180
Chromosome Location	chr2:208995274-208995275
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	HNF4A	chr2:208994936-208995463	HepG2	liver:	n/a	chr2:208994998-208995006 chr2:208995264-208995279
2	POLR2A	chr2:208994960-208995358	HepG2	liver:	n/a	n/a
3	REST	chr2:208995048-208995451	HepG2	liver:	n/a	chr2:208995112-208995132 chr2:208995112-208995132
4	GATA3	chr2:208994494-208995408	SK-N-SH	brain:	n/a	chr2:208995025-208995032 chr2:208995025-208995032 chr2:208995021-208995037 chr2:208995018-208995039 chr2:208995024-208995032 chr2:208995025-208995032
5	HEY1	chr2:208994999-208995366	HepG2	liver:	n/a	n/a
6	HNF4A	chr2:208994994-208995440	HepG2	liver:	n/a	chr2:208994998-208995006 chr2:208995264-208995279
7	RXRA	chr2:208995171-208995433	HepG2	liver:	n/a	n/a
8	SP1	chr2:208994792-208995517	HepG2	liver:	n/a	n/a
9	TEAD4	chr2:208994385-208995580	HepG2	liver:	n/a	n/a
10	GATA3	chr2:208994703-208995339	MCF-7	breast:	n/a	chr2:208995025-208995032 chr2:208995025-208995032 chr2:208995021-208995037 chr2:208995018-208995039 chr2:208995024-208995032 chr2:208995025-208995032
11	JUND	chr2:208994667-208995276	SK-N-SH	brain:	n/a	chr2:208994932-208994942 chr2:208994932-208994942 chr2:208994931-208994942 chr2:208994933-208994941
12	ARID3A	chr2:208994943-208995512	HepG2	liver:	n/a	n/a
13	GATA3	chr2:208994694-208995409	MCF-7	breast:	n/a	chr2:208995025-208995032 chr2:208995025-208995032 chr2:208995021-208995037 chr2:208995018-208995039 chr2:208995024-208995032 chr2:208995025-208995032
14	MYBL2	chr2:208994782-208995720	HepG2	liver:	n/a	n/a
15	KAP1	chr2:208994621-208995421	U2OS	brain:	n/a	n/a
16	EP300	chr2:208994855-208995453	HepG2	liver:	n/a	n/a
17	HDAC2	chr2:208994881-208995431	HepG2	liver:	n/a	n/a
18	GATA3	chr2:208994411-208995438	SK-N-SH	brain:	n/a	chr2:208995025-208995032 chr2:208995025-208995032 chr2:208995021-208995037 chr2:208995018-208995039 chr2:208995024-208995032 chr2:208995025-208995032
19	YY1	chr2:208995085-208995449	HepG2	liver:	n/a	n/a
20	TCF12	chr2:208994598-208995349	SK-N-SH	brain:	n/a	n/a
21	MBD4	chr2:208994820-208995538	HepG2	liver:	n/a	n/a
22	BHLHE40	chr2:208994968-208995359	HepG2	liver:	n/a	n/a
23	KAP1	chr2:208994852-208995365	HEK293	kidney:	n/a	n/a
24	FOSL2	chr2:208994742-208995467	HepG2	liver:	n/a	chr2:208994932-208994942 chr2:208994932-208994942 chr2:208994933-208994941
25	MBD4	chr2:208994716-208995528	HepG2	liver:	n/a	n/a
26	EP300	chr2:208994812-208995492	HepG2	liver:	n/a	n/a
27	PBX3	chr2:208994644-208995291	SK-N-SH	brain:	n/a	n/a
28	NFIC	chr2:208994668-208995461	HepG2	liver:	n/a	n/a
29	GATA2	chr2:208994417-208995366	SH-SY5Y	brain:	n/a	chr2:208995025-208995032 chr2:208995025-208995032 chr2:208995021-208995037 chr2:208995018-208995039 chr2:208995025-208995032
30	HEY1	chr2:208994971-208995435	HepG2	liver:	n/a	n/a
31	TBP	chr2:208994986-208995336	HepG2	liver:	n/a	n/a
32	RCOR1	chr2:208994866-208995350	HepG2	liver:	n/a	n/a
33	HNF4A	chr2:208994777-208995523	HepG2	liver:	n/a	chr2:208994998-208995006 chr2:208995264-208995279 chr2:208994795-208994810 chr2:208994796-208994810 chr2:208994796-208994808 chr2:208994796-208994811
34	MYBL2	chr2:208994784-208995632	HepG2	liver:	n/a	n/a
35	HNF4G	chr2:208994834-208995449	HepG2	liver:	n/a	chr2:208994998-208995006
36	TCF12	chr2:208994998-208995376	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:208995254-208995304	A549	lung:	n/a
2	chr2:208995254-208995304	HCM	heart:	n/a
3	chr2:208995254-208995304	GM06990	blood:	n/a
4	chr2:208995254-208995304	GM12891	blood:	n/a
5	chr2:208995254-208995304	AG10803	skin:	n/a
6	chr2:208995254-208995304	HAEpiC	amniotic membrane:	n/a
7	chr2:208995254-208995304	AG09309	skin:	n/a
8	chr2:208995254-208995304	HIPEpiC	eye:	n/a
9	chr2:208995254-208995304	HEEpiC	esophagus:	n/a
10	chr2:208995254-208995304	ProgFib	skin:	n/a
11	chr2:208995254-208995304	HCT-116	colon:	n/a
12	chr2:208995254-208995304	SAEC	small airway:	n/a
13	chr2:208995254-208995304	AG04450	lung:	fetal
14	chr2:208995254-208995304	BJ	skin:	n/a
15	chr2:208995254-208995304	Caco-2	colon:	n/a
16	chr2:208995254-208995304	RPTEC	kidney:	n/a
17	chr2:208995254-208995304	HCPEpiC	choroid plexus:	n/a
18	chr2:208995254-208995304	Hepatocyte	liver:	n/a
19	chr2:208995254-208995304	HEK293	kidney:	embryo
20	chr2:208995254-208995304	U87	brain:	n/a
21	chr2:208995254-208995304	MCF10A-Er-Src	breast:	n/a
22	chr2:208995254-208995304	CMK	blood:	n/a
23	chr2:208995254-208995304	HNPCEpiC	eye:	n/a
24	chr2:208995254-208995304	H1-hESC	embryonic stem cell:	embryo
25	chr2:208995254-208995304	HCF	heart:	n/a
26	chr2:208995254-208995304	K562	blood:	n/a
27	chr2:208995254-208995304	Hela-S3	cervix:	n/a
28	chr2:208995254-208995304	PANC-1	pancreas:	n/a
29	chr2:208995254-208995304	AG09319	gingival:	n/a
30	chr2:208995254-208995304	T-47D	breast:	n/a
31	chr2:208995254-208995304	GM12892	blood:	n/a
32	chr2:208995254-208995304	NB4	blood:	n/a
33	chr2:208995254-208995304	GM12878	blood:	n/a
34	chr2:208995254-208995304	HRE	kidney:	n/a
35	chr2:208995254-208995304	NH-A	brain:	n/a
36	chr2:208995254-208995304	PrEC	prostate:	n/a
37	chr2:208995254-208995304	NT2-D1	testis:	n/a
38	chr2:208995254-208995304	HMEC	breast:	n/a
39	chr2:208995254-208995304	NHDF-neo	bronchial:	n/a
40	chr2:208995254-208995304	NHBE	bronchial:	n/a
41	chr2:208995254-208995304	HPAEpiC	pulmonary alveolar:	n/a
42	chr2:208995254-208995304	AoSMC	blood vessel:	n/a
43	chr2:208995254-208995304	BE2_C	brain:	n/a
44	chr2:208995254-208995304	HL-60	blood:	n/a
45	chr2:208995254-208995304	MCF-7	breast:	n/a
46	chr2:208995254-208995304	SK-N-MC	brain:	n/a
47	chr2:208995254-208995304	IMR90	lung:	fetal
48	chr2:208995254-208995304	HUVEC	blood vessel:	n/a
49	chr2:208995254-208995304	HRPEpiC	eye:	n/a
50	chr2:208995254-208995304	ovcar-3	ovarian:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:208995156..208996689-chr2:208999145..209001053,2	MCF-7	breast:
2	chr2:208989109..208991585-chr2:208994453..208996077,2	K562	blood:

Variant related genes	Relation type
CRYGC	TF binding region
CRYGC	CpG island
ENSG00000118231	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010531	chr2:208610639-209176782	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv536130	chr2:208610639-209176782	Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv534496	chr2:208814372-209302791	Strong transcription Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv875747	chr2:208990345-209042963	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv875748	chr2:208994399-209033557	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208989400-208999800	Weak transcription	Pancreas	Pancrea
2	chr2:208993400-209002200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:208994000-208998400	Enhancers	Fetal Intestine Large	intestine
4	chr2:208994200-208995400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:208994200-208995400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr2:208994200-208996200	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:208994200-208997000	Enhancers	HMEC	breast
8	chr2:208994200-208998400	Enhancers	Fetal Intestine Small	intestine
9	chr2:208994400-208995400	Enhancers	Placenta	Placenta
10	chr2:208994400-208995800	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr2:208994600-208995400	Enhancers	NHEK	skin
12	chr2:208994600-208995600	Flanking Active TSS	HepG2	liver
13	chr2:208994600-208995800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr2:208994600-208996000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:208994600-208996200	Enhancers	Hela-S3	cervix
16	chr2:208994600-208999600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:208994600-209002200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:208994800-208996000	Enhancers	Stomach Mucosa	stomach
19	chr2:208995000-208995400	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr2:208995000-208997000	Enhancers	Ovary	ovary
21	chr2:208995200-208996800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr2:208995200-208996800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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