Variant report

Variant	rs7134750
Chromosome Location	chr12:8973983-8973984
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8973966-8974016	SKMC	muscle:	n/a
2	chr12:8973966-8974016	HL-60	blood:	n/a
3	chr12:8973966-8974016	RPTEC	kidney:	n/a
4	chr12:8973966-8974016	AG10803	skin:	n/a
5	chr12:8973966-8974016	HCPEpiC	choroid plexus:	n/a
6	chr12:8973966-8974016	K562	blood:	n/a
7	chr12:8973966-8974016	MCF-7	breast:	n/a
8	chr12:8973966-8974016	NHDF-neo	bronchial:	n/a
9	chr12:8973966-8974016	GM12892	blood:	n/a
10	chr12:8973966-8974016	Hela-S3	cervix:	n/a
11	chr12:8973966-8974016	HEK293	kidney:	embryo
12	chr12:8973966-8974016	AoSMC	blood vessel:	n/a
13	chr12:8973966-8974016	IMR90	lung:	fetal
14	chr12:8973966-8974016	GM12878	blood:	n/a
15	chr12:8973966-8974016	U87	brain:	n/a
16	chr12:8973966-8974016	T-47D	breast:	n/a
17	chr12:8973966-8974016	MCF10A-Er-Src	breast:	n/a
18	chr12:8973966-8974016	HNPCEpiC	eye:	n/a
19	chr12:8973966-8974016	SK-N-SH_RA	brain:	n/a
20	chr12:8973966-8974016	H1-hESC	embryonic stem cell:	embryo
21	chr12:8973966-8974016	PrEC	prostate:	n/a
22	chr12:8973966-8974016	A549	lung:	n/a
23	chr12:8973966-8974016	HAEpiC	amniotic membrane:	n/a
24	chr12:8973966-8974016	AG09319	gingival:	n/a
25	chr12:8973966-8974016	NT2-D1	testis:	n/a
26	chr12:8973966-8974016	Hepatocyte	liver:	n/a
27	chr12:8973966-8974016	HRE	kidney:	n/a
28	chr12:8973966-8974016	BJ	skin:	n/a
29	chr12:8973966-8974016	NB4	blood:	n/a
30	chr12:8973966-8974016	Caco-2	colon:	n/a
31	chr12:8973966-8974016	HCM	heart:	n/a
32	chr12:8973966-8974016	PFSK-1	brain:	n/a
33	chr12:8973966-8974016	HRCEpiC	kidney:	n/a
34	chr12:8973966-8974016	HCT-116	colon:	n/a
35	chr12:8973966-8974016	GM06990	blood:	n/a
36	chr12:8973966-8974016	ECC-1	luminal epithelium:	n/a
37	chr12:8973966-8974016	GM19239	blood:	n/a
38	chr12:8973966-8974016	ProgFib	skin:	n/a
39	chr12:8973966-8974016	HEEpiC	esophagus:	n/a
40	chr12:8973966-8974016	CMK	blood:	n/a
41	chr12:8973966-8974016	HepG2	liver:	n/a
42	chr12:8973966-8974016	LNCaP	prostate:	n/a
43	chr12:8973966-8974016	HMEC	breast:	n/a
44	chr12:8973966-8974016	SK-N-MC	brain:	n/a
45	chr12:8973966-8974016	HPAEpiC	pulmonary alveolar:	n/a
46	chr12:8973966-8974016	SK-N-SH	brain:	n/a
47	chr12:8973966-8974016	SAEC	small airway:	n/a
48	chr12:8973966-8974016	BE2_C	brain:	n/a
49	chr12:8973966-8974016	NHBE	bronchial:	n/a
50	chr12:8973966-8974016	HCF	heart:	n/a

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:8849321..8851641-chr12:8972402..8975328,2	K562	blood:

No data

Variant related genes	Relation type
A2ML1-AS2	CpG island
A2ML1	CpG island
ENSG00000166532	Chromatin interaction

rs_ID	r²[population]
rs10082851	1.00[EUR][1000 genomes]
rs10082862	1.00[EUR][1000 genomes]
rs10129059	1.00[EUR][1000 genomes]
rs11046855	1.00[EUR][1000 genomes]
rs11046861	1.00[EUR][1000 genomes]
rs11046868	1.00[EUR][1000 genomes]
rs11046869	1.00[EUR][1000 genomes]
rs11046888	1.00[EUR][1000 genomes]
rs11046896	1.00[EUR][1000 genomes]
rs11046898	1.00[EUR][1000 genomes]
rs11046899	1.00[EUR][1000 genomes]
rs11046943	1.00[EUR][1000 genomes]
rs11047004	1.00[EUR][1000 genomes]
rs11047012	1.00[EUR][1000 genomes]
rs11047040	1.00[EUR][1000 genomes]
rs11047058	1.00[EUR][1000 genomes]
rs11047060	1.00[EUR][1000 genomes]
rs11047080	1.00[EUR][1000 genomes]
rs11047108	1.00[EUR][1000 genomes]
rs11047109	1.00[EUR][1000 genomes]
rs11502439	1.00[EUR][1000 genomes]
rs12099874	1.00[EUR][1000 genomes]
rs12296102	1.00[EUR][1000 genomes]
rs12297411	1.00[EUR][1000 genomes]
rs12297919	1.00[EUR][1000 genomes]
rs12298316	1.00[EUR][1000 genomes]
rs12299388	1.00[EUR][1000 genomes]
rs12300916	1.00[EUR][1000 genomes]
rs12307497	1.00[EUR][1000 genomes]
rs12311048	1.00[EUR][1000 genomes]
rs12311105	1.00[EUR][1000 genomes]
rs12312707	1.00[EUR][1000 genomes]
rs12314072	1.00[EUR][1000 genomes]
rs12314823	1.00[EUR][1000 genomes]
rs12315566	1.00[EUR][1000 genomes]
rs12318911	1.00[EUR][1000 genomes]
rs12319105	1.00[EUR][1000 genomes]
rs12319898	1.00[EUR][1000 genomes]
rs12320520	1.00[EUR][1000 genomes]
rs12320578	1.00[EUR][1000 genomes]
rs12321251	1.00[EUR][1000 genomes]
rs12322748	1.00[EUR][1000 genomes]
rs28651596	1.00[EUR][1000 genomes]
rs28812300	1.00[EUR][1000 genomes]
rs57750938	1.00[EUR][1000 genomes]
rs58191549	1.00[EUR][1000 genomes]
rs58704538	1.00[EUR][1000 genomes]
rs58777503	1.00[EUR][1000 genomes]
rs59291561	1.00[EUR][1000 genomes]
rs59480189	1.00[EUR][1000 genomes]
rs59705800	1.00[EUR][1000 genomes]
rs60389926	1.00[EUR][1000 genomes]
rs60467762	1.00[EUR][1000 genomes]
rs60925344	1.00[EUR][1000 genomes]
rs61368791	1.00[EUR][1000 genomes]
rs61734941	1.00[ASN][1000 genomes]
rs7139182	1.00[EUR][1000 genomes]
rs7953439	1.00[EUR][1000 genomes]
rs7953800	1.00[EUR][1000 genomes]
rs7979018	1.00[EUR][1000 genomes]
rs7980514	1.00[EUR][1000 genomes]
rs9783460	1.00[EUR][1000 genomes]
rs9783480	1.00[EUR][1000 genomes]
rs9783524	1.00[EUR][1000 genomes]

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8966800-8975600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:8967000-8975000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:8967800-8974000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr12:8969800-8975600	Enhancers	Placenta	Placenta
5	chr12:8970200-8975600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:8970800-8975600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:8970800-8975800	Weak transcription	K562	blood
8	chr12:8971400-8974000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:8971800-8974400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:8972000-8975200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:8972600-8974800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr12:8972600-8975000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:8972600-8975000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:8972800-8974000	Weak transcription	NHEK	skin
15	chr12:8972800-8974200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:8972800-8974200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:8972800-8975000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:8972800-8975200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:8973000-8975000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:8973000-8975000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:8973400-8976000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:8973400-8976800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:8973600-8974200	Enhancers	Esophagus	oesophagus
24	chr12:8973600-8975000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr12:8973600-8975600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr12:8973600-8976000	Enhancers	Placenta Amnion	Placenta Amnion

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