Variant report

Variant	rs116789954
Chromosome Location	chr12:10563947-10563948
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr12:10563781-10564125	GM12878	blood:	n/a	n/a
2	CTCF	chr12:10563900-10564050	GM12868	blood:	n/a	n/a
3	CTCF	chr12:10563840-10563990	GM12864	blood:	n/a	n/a
4	CTCF	chr12:10563841-10564129	MCF-7	breast:	n/a	n/a
5	CTCF	chr12:10563897-10564031	NHEK	skin:	n/a	n/a
6	POLR2A	chr12:10563887-10564051	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr12:10563840-10563990	SAEC	small airway:	n/a	n/a
8	CEBPB	chr12:10563800-10564310	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr12:10563792-10564114	K562	blood:	n/a	n/a
10	CTCF	chr12:10563840-10563990	GM12873	blood:	n/a	n/a
11	CTCF	chr12:10563880-10564030	GM12864	blood:	n/a	n/a
12	JUND	chr12:10563767-10563964	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr12:10563860-10564010	GM12878	blood:	n/a	n/a
14	CTCF	chr12:10563860-10564010	HEK293	kidney:	n/a	n/a
15	CTCF	chr12:10563920-10564070	HEK293	kidney:	n/a	n/a
16	CTCF	chr12:10563880-10564030	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:10563880-10564030	HCT-116	colon:	n/a	n/a
18	CTCF	chr12:10563840-10563990	GM12874	blood:	n/a	n/a
19	CTCF	chr12:10563880-10564030	RPTEC	kidney:	n/a	n/a
20	CTCF	chr12:10563880-10564030	GM12871	blood:	n/a	n/a
21	CTCF	chr12:10563752-10564135	GM12878	blood:	n/a	n/a
22	RAD21	chr12:10563853-10564089	HepG2	liver:	n/a	n/a
23	CTCF	chr12:10563866-10564053	K562	blood:	n/a	n/a
24	CTCF	chr12:10563913-10563980	Spleen_OC	spleen:	n/a	n/a
25	RAD21	chr12:10563784-10564193	MCF-7	breast:	n/a	n/a
26	CTCF	chr12:10563860-10564010	GM12867	blood:	n/a	n/a
27	CTCF	chr12:10563840-10563990	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr12:10563860-10564010	GM12873	blood:	n/a	n/a
29	CTCF	chr12:10563920-10564070	Caco-2	colon:	n/a	n/a
30	POLR2A	chr12:10563683-10564776	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr12:10563840-10563990	HepG2	liver:	n/a	n/a
32	CTCF	chr12:10563860-10564010	Hela-S3	cervix:	n/a	n/a
33	CTCF	chr12:10563904-10564034	GM13977	blood:	n/a	n/a
34	CTCF	chr12:10563840-10563990	GM12869	blood:	n/a	n/a
35	RAD21	chr12:10563743-10564222	MCF-7	breast:	n/a	n/a
36	CTCF	chr12:10563860-10564010	GM12872	blood:	n/a	n/a
37	CTCF	chr12:10563840-10563990	GM06990	blood:	n/a	n/a
38	CTCF	chr12:10563860-10564010	RPTEC	kidney:	n/a	n/a
39	USF1	chr12:10563836-10564116	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr12:10563860-10564010	SAEC	small airway:	n/a	n/a
41	CTCF	chr12:10563860-10564010	GM12871	blood:	n/a	n/a
42	RCOR1	chr12:10563946-10564314	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr12:10563840-10564035	HepG2	liver:	n/a	n/a
44	CTCF	chr12:10563860-10564010	HRE	kidney:	n/a	n/a
45	CTCF	chr12:10563840-10563990	BE2_C	brain:	n/a	n/a
46	CTCF	chr12:10563900-10564050	SK-N-SH_RA	brain:	n/a	n/a
47	CTCF	chr12:10563840-10563990	GM12875	blood:	n/a	n/a
48	CTCF	chr12:10563900-10564050	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr12:10563860-10564010	HMEC	breast:	n/a	n/a
50	CTCF	chr12:10563820-10563970	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:10563346..10565218-chr12:11316267..11318781,2	K562	blood:
2	chr1:28974955..28975586-chr12:10563608..10564342,2	Hela-S3	cervix:
3	chr12:10514090..10517702-chr12:10563594..10568036,4	K562	blood:

No data

Variant related genes	Relation type
KLRC4-KLRK1	TF binding region
KLRC4	TF binding region
ENSG00000245648	Chromatin interaction
ENSG00000270103	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 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	nsv898759	chr12:10454556-10583365	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv898760	chr12:10492982-10564329	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv898761	chr12:10496724-10564329	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1036390	chr12:10496724-10596720	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv898762	chr12:10509383-10564329	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv898763	chr12:10514528-10603670	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv1051292	chr12:10547900-10596720	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
17	esv1809664	chr12:10551852-10598784	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	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
19	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
20	nsv973196	chr12:10559010-10573933	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
21	nsv983434	chr12:10559010-10600415	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	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
23	nsv521062	chr12:10560957-10604945	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	esv3503718	chr12:10562526-10589131	Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
25	esv3503730	chr12:10562526-10589131	Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
26	esv4003	chr12:10562591-10589105	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
27	esv1813897	chr12:10563876-10602124	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10548600-10564000	Weak transcription	Brain Angular Gyrus	brain
2	chr12:10550800-10564000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:10559800-10564000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:10562200-10564000	Weak transcription	K562	blood
5	chr12:10562200-10566600	Weak transcription	Hela-S3	cervix
6	chr12:10562200-10572800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:10563000-10564400	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:10563600-10564200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr12:10563600-10564600	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr12:10563800-10564000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr12:10563800-10564000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:10563800-10564000	Enhancers	GM12878-XiMat	blood
13	chr12:10563800-10564200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr12:10563800-10564200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:10563800-10564200	Enhancers	Primary B cells from cord blood	blood
16	chr12:10563800-10564400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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