Variant report

Variant	rs62427582
Chromosome Location	chr6:107193903-107193904
allele	A/C
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	PRDM1	chr6:107193883-107195234	Hela-S3	cervix:	n/a	chr6:107194665-107194679 chr6:107194671-107194684 chr6:107194670-107194685 chr6:107194671-107194685
2	RAD21	chr6:107193883-107195412	Hela-S3	cervix:	n/a	n/a
3	FOS	chr6:107193840-107195417	MCF10A-Er-Src	breast:	n/a	chr6:107194883-107194894
4	SMARCC1	chr6:107193667-107195397	Hela-S3	cervix:	n/a	n/a
5	SMC3	chr6:107193152-107195432	Hela-S3	cervix:	n/a	n/a
6	SIN3AK20	chr6:107193808-107195084	MCF-7	breast:	n/a	n/a
7	GTF2F1	chr6:107193809-107195381	Hela-S3	cervix:	n/a	n/a
8	USF2	chr6:107193734-107195430	Hela-S3	cervix:	n/a	chr6:107194105-107194116
9	MAX	chr6:107193767-107195445	Hela-S3	cervix:	n/a	n/a
10	GATA3	chr6:107193793-107195214	A549	lung:	n/a	chr6:107194741-107194750
11	NR2F2	chr6:107193786-107194716	MCF-7	breast:	n/a	n/a
12	KAP1	chr6:107193752-107195162	U2OS	brain:	n/a	n/a
13	MAFK	chr6:107193642-107195306	Hela-S3	cervix:	n/a	chr6:107194363-107194383 chr6:107194365-107194381 chr6:107194244-107194253 chr6:107194362-107194377 chr6:107194366-107194380
14	EP300	chr6:107193888-107195126	A549	lung:	n/a	chr6:107194629-107194642 chr6:107193911-107193921 chr6:107194812-107194825
15	FOS	chr6:107193717-107195414	MCF10A-Er-Src	breast:	n/a	chr6:107194883-107194894
16	EP300	chr6:107193882-107194973	MCF-7	breast:	n/a	chr6:107194629-107194642 chr6:107193911-107193921 chr6:107194812-107194825
17	CEBPB	chr6:107193063-107195386	Hela-S3	cervix:	n/a	n/a
18	GATA3	chr6:107193820-107194465	MCF-7	breast:	n/a	n/a
19	TCF12	chr6:107193893-107194845	MCF-7	breast:	n/a	chr6:107194244-107194253 chr6:107194116-107194123 chr6:107194293-107194303
20	RCOR1	chr6:107193836-107195421	Hela-S3	cervix:	n/a	n/a
21	TFAP2A	chr6:107193714-107195266	Hela-S3	cervix:	n/a	chr6:107194227-107194238 chr6:107194227-107194238 chr6:107194227-107194238 chr6:107194223-107194238
22	RFX5	chr6:107193058-107195415	Hela-S3	cervix:	n/a	n/a
23	EP300	chr6:107193815-107195116	A549	lung:	n/a	chr6:107194629-107194642 chr6:107193911-107193921 chr6:107194812-107194825
24	STAT3	chr6:107193645-107193918	MCF10A-Er-Src	breast:	n/a	n/a
25	KAP1	chr6:107193695-107195225	HEK293	kidney:	n/a	n/a
26	FOS	chr6:107193773-107193968	MCF10A-Er-Src	breast:	n/a	n/a
27	TCF12	chr6:107193862-107195171	A549	lung:	n/a	chr6:107194244-107194253 chr6:107194116-107194123 chr6:107194293-107194303
28	SIN3AK20	chr6:107193838-107194737	MCF-7	breast:	n/a	n/a
29	GATA3	chr6:107193810-107195025	MCF-7	breast:	n/a	chr6:107194741-107194750
30	HDAC2	chr6:107193876-107194911	MCF-7	breast:	n/a	chr6:107193912-107193921 chr6:107194386-107194395
31	STAT3	chr6:107193862-107195413	MCF10A-Er-Src	breast:	n/a	n/a
32	FOXM1	chr6:107193794-107194893	MCF-7	breast:	n/a	n/a
33	MAX	chr6:107193741-107194500	MCF-7	breast:	n/a	n/a
34	SMARCC2	chr6:107193714-107194908	Hela-S3	cervix:	n/a	n/a
35	GATA3	chr6:107193844-107195065	MCF-7	breast:	n/a	chr6:107194741-107194750
36	NR2F2	chr6:107193829-107194614	MCF-7	breast:	n/a	n/a
37	STAT3	chr6:107193879-107194901	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT1	chr6:107193262-107195397	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr6:107193602-107195698	MCF10A-Er-Src	breast:	n/a	n/a
40	MAX	chr6:107193621-107195100	A549	lung:	n/a	n/a
41	TFAP2C	chr6:107193269-107195416	Hela-S3	cervix:	n/a	chr6:107194223-107194238
42	MYC	chr6:107193803-107195356	MCF10A-Er-Src	breast:	n/a	n/a
43	JUND	chr6:107193196-107195417	Hela-S3	cervix:	n/a	chr6:107194883-107194894

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:107193903-107193953	Hepatocyte	liver:	n/a
2	chr6:107193903-107193953	NHDF-neo	bronchial:	n/a
3	chr6:107193903-107193953	A549	lung:	n/a
4	chr6:107193903-107193953	AG09319	gingival:	n/a
5	chr6:107193903-107193953	HNPCEpiC	eye:	n/a
6	chr6:107193903-107193953	HPAEpiC	pulmonary alveolar:	n/a
7	chr6:107193903-107193953	AoSMC	blood vessel:	n/a
8	chr6:107193903-107193953	K562	blood:	n/a
9	chr6:107193903-107193953	ovcar-3	ovarian:	n/a
10	chr6:107193903-107193953	HCF	heart:	n/a
11	chr6:107193903-107193953	NB4	blood:	n/a
12	chr6:107193903-107193953	GM12891	blood:	n/a
13	chr6:107193903-107193953	HRE	kidney:	n/a
14	chr6:107193903-107193953	SAEC	small airway:	n/a
15	chr6:107193903-107193953	ECC-1	luminal epithelium:	n/a
16	chr6:107193903-107193953	Jurkat	blood:	n/a
17	chr6:107193903-107193953	LNCaP	prostate:	n/a
18	chr6:107193903-107193953	HCT-116	colon:	n/a
19	chr6:107193903-107193953	HMEC	breast:	n/a
20	chr6:107193903-107193953	SK-N-SH_RA	brain:	n/a
21	chr6:107193903-107193953	GM12878	blood:	n/a
22	chr6:107193903-107193953	MCF10A-Er-Src	breast:	n/a
23	chr6:107193903-107193953	MCF-7	breast:	n/a
24	chr6:107193903-107193953	HCPEpiC	choroid plexus:	n/a
25	chr6:107193903-107193953	GM12892	blood:	n/a
26	chr6:107193903-107193953	ProgFib	skin:	n/a
27	chr6:107193903-107193953	T-47D	breast:	n/a
28	chr6:107193903-107193953	HEEpiC	esophagus:	n/a
29	chr6:107193903-107193953	Caco-2	colon:	n/a
30	chr6:107193903-107193953	HUVEC	blood vessel:	n/a
31	chr6:107193903-107193953	HL-60	blood:	n/a
32	chr6:107193903-107193953	HCM	heart:	n/a
33	chr6:107193903-107193953	AG04449	skin:	fetal
34	chr6:107193903-107193953	AG10803	skin:	n/a
35	chr6:107193903-107193953	U87	brain:	n/a
36	chr6:107193903-107193953	SKMC	muscle:	n/a
37	chr6:107193903-107193953	CMK	blood:	n/a
38	chr6:107193903-107193953	PFSK-1	brain:	n/a
39	chr6:107193903-107193953	IMR90	lung:	fetal
40	chr6:107193903-107193953	HRCEpiC	kidney:	n/a
41	chr6:107193903-107193953	NH-A	brain:	n/a
42	chr6:107193903-107193953	HEK293	kidney:	embryo
43	chr6:107193903-107193953	AG04450	lung:	fetal
44	chr6:107193903-107193953	BJ	skin:	n/a
45	chr6:107193903-107193953	RPTEC	kidney:	n/a
46	chr6:107193903-107193953	NHBE	bronchial:	n/a
47	chr6:107193903-107193953	H1-hESC	embryonic stem cell:	embryo
48	chr6:107193903-107193953	PANC-1	pancreas:	n/a
49	chr6:107193903-107193953	Hela-S3	cervix:	n/a
50	chr6:107193903-107193953	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:107193387..107196491-chr6:107229879..107233395,4	MCF-7	breast:
2	chr6:107191814..107196655-chr6:107220470..107222924,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTN4IP1-2	chr6:107187576-107197663	NONHSAT114255
2	lnc-RTN4IP1-2	chr6:107190755-107195163	NONHSAT114264
3	lnc-RTN4IP1-2	chr6:107193119-107195163	NONHSAT114265

Variant related genes	Relation type
ENSG00000235142	TF binding region
ENSG00000235142	CpG island
ENSG00000235142	Chromatin interaction
ENSG00000207577	Chromatin interaction

rs_ID	r²[population]
rs17067716	1.00[EUR][1000 genomes]
rs56838214	1.00[EUR][1000 genomes]
rs58207285	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62427583	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62427584	1.00[EUR][1000 genomes]
rs62427585	1.00[EUR][1000 genomes]
rs62427586	1.00[EUR][1000 genomes]
rs62427587	1.00[EUR][1000 genomes]
rs62427588	1.00[EUR][1000 genomes]
rs62427589	1.00[EUR][1000 genomes]
rs732290	1.00[EUR][1000 genomes]
rs7768266	1.00[EUR][1000 genomes]
rs7769052	1.00[EUR][1000 genomes]
rs9486458	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:107179800-107197600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:107191000-107200800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:107191200-107200400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:107191400-107195800	Enhancers	HMEC	breast
5	chr6:107191400-107195800	Enhancers	NHEK	skin
6	chr6:107191600-107195400	Enhancers	Placenta	Placenta
7	chr6:107192000-107195000	Enhancers	HepG2	liver
8	chr6:107192200-107194600	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr6:107192200-107195200	Enhancers	Fetal Intestine Small	intestine
10	chr6:107192200-107195400	Enhancers	Fetal Intestine Large	intestine
11	chr6:107192600-107194000	Weak transcription	Colonic Mucosa	Colon
12	chr6:107192600-107194400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr6:107192800-107194800	Weak transcription	Stomach Mucosa	stomach
14	chr6:107192800-107200000	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr6:107193000-107198400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr6:107193200-107194800	Enhancers	Fetal Lung	lung
17	chr6:107193200-107195400	Enhancers	Fetal Muscle Leg	muscle
18	chr6:107193400-107194000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:107193400-107195800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:107193600-107194200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:107193600-107194200	Enhancers	Pancreas	Pancrea
22	chr6:107193600-107194400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr6:107193600-107195200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr6:107193600-107195400	Flanking Active TSS	Hela-S3	cervix
25	chr6:107193600-107195600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr6:107193800-107194200	Enhancers	Esophagus	oesophagus
27	chr6:107193800-107194200	Flanking Active TSS	A549	lung
28	chr6:107193800-107194200	Enhancers	Osteobl	bone
29	chr6:107193800-107194400	Enhancers	Psoas Muscle	Psoas
30	chr6:107193800-107195200	Enhancers	HSMMtube	muscle
31	chr6:107193800-107195400	Enhancers	HSMM	muscle
32	chr6:107193800-107199200	Weak transcription	Liver	Liver

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