Variant report

Variant	rs74062026
Chromosome Location	chr12:10605936-10605937
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr12:10605806-10606201	MCF10A-Er-Src	breast:	n/a	chr12:10605958-10605969
2	FOS	chr12:10605821-10606178	MCF10A-Er-Src	breast:	n/a	chr12:10605958-10605969
3	CEBPB	chr12:10605878-10606169	IMR90	lung:	n/a	chr12:10606038-10606049
4	MYC	chr12:10605709-10606207	MCF10A-Er-Src	breast:	n/a	n/a
5	CEBPB	chr12:10605864-10606214	HepG2	liver:	n/a	chr12:10606038-10606049
6	CEBPB	chr12:10605885-10606198	A549	lung:	n/a	chr12:10606038-10606049
7	RFX5	chr12:10605872-10605947	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr12:10605854-10606222	Hela-S3	cervix:	n/a	chr12:10606038-10606049
9	MYC	chr12:10605865-10606255	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr12:10605769-10606231	MCF10A-Er-Src	breast:	n/a	n/a
11	STAT3	chr12:10605730-10606265	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr12:10605709-10606249	MCF10A-Er-Src	breast:	n/a	chr12:10605958-10605969
13	STAT3	chr12:10605767-10606279	MCF10A-Er-Src	breast:	n/a	n/a
14	STAT3	chr12:10605781-10606207	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr12:10605711-10606300	MCF10A-Er-Src	breast:	n/a	chr12:10605958-10605969
16	E2F4	chr12:10605876-10606076	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10605936-10605986	RPTEC	kidney:	n/a
2	chr12:10605936-10605986	HIPEpiC	eye:	n/a
3	chr12:10605936-10605986	HEEpiC	esophagus:	n/a
4	chr12:10605936-10605986	AoSMC	blood vessel:	n/a
5	chr12:10605936-10605986	PFSK-1	brain:	n/a
6	chr12:10605936-10605986	SAEC	small airway:	n/a
7	chr12:10605936-10605986	HMEC	breast:	n/a
8	chr12:10605936-10605986	ECC-1	luminal epithelium:	n/a
9	chr12:10605936-10605986	HCPEpiC	choroid plexus:	n/a
10	chr12:10605936-10605986	ovcar-3	ovarian:	n/a
11	chr12:10605936-10605986	H1-hESC	embryonic stem cell:	embryo
12	chr12:10605936-10605986	T-47D	breast:	n/a
13	chr12:10605936-10605986	LNCaP	prostate:	n/a
14	chr12:10605936-10605986	HUVEC	blood vessel:	n/a
15	chr12:10605936-10605986	SK-N-SH	brain:	n/a
16	chr12:10605936-10605986	HL-60	blood:	n/a
17	chr12:10605936-10605986	Caco-2	colon:	n/a
18	chr12:10605936-10605986	GM06990	blood:	n/a
19	chr12:10605936-10605986	HRE	kidney:	n/a
20	chr12:10605936-10605986	BJ	skin:	n/a
21	chr12:10605936-10605986	NB4	blood:	n/a
22	chr12:10605936-10605986	HEK293	kidney:	embryo
23	chr12:10605936-10605986	Jurkat	blood:	n/a
24	chr12:10605936-10605986	HAEpiC	amniotic membrane:	n/a
25	chr12:10605936-10605986	Hela-S3	cervix:	n/a
26	chr12:10605936-10605986	SK-N-SH_RA	brain:	n/a
27	chr12:10605936-10605986	HPAEpiC	pulmonary alveolar:	n/a
28	chr12:10605936-10605986	U87	brain:	n/a
29	chr12:10605936-10605986	AG10803	skin:	n/a
30	chr12:10605936-10605986	SKMC	muscle:	n/a
31	chr12:10605936-10605986	PANC-1	pancreas:	n/a
32	chr12:10605936-10605986	HCM	heart:	n/a
33	chr12:10605936-10605986	IMR90	lung:	fetal
34	chr12:10605936-10605986	AG09309	skin:	n/a
35	chr12:10605936-10605986	HepG2	liver:	n/a
36	chr12:10605936-10605986	BE2_C	brain:	n/a
37	chr12:10605936-10605986	MCF10A-Er-Src	breast:	n/a
38	chr12:10605936-10605986	AG04450	lung:	fetal
39	chr12:10605936-10605986	K562	blood:	n/a
40	chr12:10605936-10605986	GM19239	blood:	n/a
41	chr12:10605936-10605986	NT2-D1	testis:	n/a
42	chr12:10605936-10605986	CMK	blood:	n/a
43	chr12:10605936-10605986	HNPCEpiC	eye:	n/a
44	chr12:10605936-10605986	GM12878	blood:	n/a
45	chr12:10605936-10605986	NHBE	bronchial:	n/a
46	chr12:10605936-10605986	AG09319	gingival:	n/a
47	chr12:10605936-10605986	A549	lung:	n/a
48	chr12:10605936-10605986	HRPEpiC	eye:	n/a
49	chr12:10605936-10605986	GM12892	blood:	n/a
50	chr12:10605936-10605986	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:10604438..10606172-chr12:10606795..10608691,2	K562	blood:

No data

Variant related genes	Relation type
KLRC1	TF binding region
KLRC1	CpG island
ENSG00000134545	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12423025	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12423464	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12424871	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12425047	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12425840	0.81[EUR][1000 genomes]
rs12426187	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427017	1.00[EUR][1000 genomes]
rs1971939	1.00[EUR][1000 genomes]
rs2253365	1.00[EUR][1000 genomes]
rs2294148	1.00[EUR][1000 genomes]
rs2417741	0.80[ASN][1000 genomes]
rs2417897	0.82[ASN][1000 genomes]
rs2417898	0.82[ASN][1000 genomes]
rs3809215	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3983616	0.92[EUR][1000 genomes]
rs57106039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59372234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60018231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60078099	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60248367	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61571638	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6488287	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6488290	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7131960	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7134846	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72475439	0.93[EUR][1000 genomes]
rs72475440	1.00[EUR][1000 genomes]
rs72475441	1.00[EUR][1000 genomes]
rs72475442	1.00[EUR][1000 genomes]
rs72475448	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72475449	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72475450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72475451	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72475452	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7301325	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7309785	0.82[ASN][1000 genomes]
rs7310149	0.80[ASN][1000 genomes]
rs74060400	1.00[EUR][1000 genomes]
rs74062006	0.84[EUR][1000 genomes]
rs74062015	0.97[AMR][1000 genomes]
rs74062025	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7952993	1.00[EUR][1000 genomes]
rs7953443	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7969985	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832328	chr12:10398071-10620443	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv8914	chr12:10532300-10662676	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv557456	chr12:10532326-10698255	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv898764	chr12:10537269-10698255	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv898765	chr12:10537269-10701992	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv898766	chr12:10537269-10722585	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv557457	chr12:10545925-10698255	Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv557458	chr12:10546140-10698255	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv606	chr12:10552632-10612899	Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv898767	chr12:10553930-10622047	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv557459	chr12:10560591-10729821	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
13	nsv870117	chr12:10565955-10648821	Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv557477	chr12:10601690-10698255	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv557478	chr12:10604945-10698255	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10600800-10606000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:10604000-10606200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:10605600-10606000	Enhancers	HMEC	breast
4	chr12:10605600-10606200	Enhancers	Rectal Mucosa Donor 31	rectum

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