Variant report

Variant	rs17165030
Chromosome Location	chr4:798753-798754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr4:798472-798800	K562	blood:	n/a	n/a
2	YY1	chr4:798499-798781	HepG2	liver:	n/a	n/a
3	YY1	chr4:798562-798807	A549	lung:	n/a	n/a
4	YY1	chr4:798393-798845	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr4:798487-798864	K562	blood:	n/a	n/a
6	YY1	chr4:798506-798785	GM12892	blood:	n/a	n/a
7	YY1	chr4:798515-798794	SK-N-SH_RA	brain:	n/a	n/a
8	YY1	chr4:798512-798804	K562	blood:	n/a	n/a
9	YY1	chr4:798477-798783	HepG2	liver:	n/a	n/a
10	YY1	chr4:798476-798815	GM12891	blood:	n/a	n/a
11	YY1	chr4:798500-798874	NT2-D1	testis:	n/a	n/a
12	YY1	chr4:798481-798835	GM12878	blood:	n/a	n/a
13	YY1	chr4:798486-798811	GM12891	blood:	n/a	n/a
14	YY1	chr4:798482-798852	GM12878	blood:	n/a	n/a
15	YY1	chr4:798317-799027	H1-hESC	embryonic stem cell:	n/a	n/a
16	YY1	chr4:798516-798871	GM12892	blood:	n/a	n/a
17	YY1	chr4:798475-798791	ECC-1	luminal epithelium:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:798711-798761	Hepatocyte	liver:	n/a
2	chr4:798711-798761	Caco-2	colon:	n/a
3	chr4:798711-798761	MCF-7	breast:	n/a
4	chr4:798711-798761	K562	blood:	n/a
5	chr4:798711-798761	U87	brain:	n/a
6	chr4:798711-798761	HUVEC	blood vessel:	n/a
7	chr4:798711-798761	HRCEpiC	kidney:	n/a
8	chr4:798711-798761	HCM	heart:	n/a
9	chr4:798711-798761	HCF	heart:	n/a
10	chr4:798711-798761	A549	lung:	n/a
11	chr4:798711-798761	GM12891	blood:	n/a
12	chr4:798711-798761	HL-60	blood:	n/a
13	chr4:798711-798761	ovcar-3	ovarian:	n/a
14	chr4:798711-798761	NHBE	bronchial:	n/a
15	chr4:798711-798761	HNPCEpiC	eye:	n/a
16	chr4:798711-798761	NH-A	brain:	n/a
17	chr4:798711-798761	GM06990	blood:	n/a
18	chr4:798711-798761	GM19239	blood:	n/a
19	chr4:798711-798761	ProgFib	skin:	n/a
20	chr4:798711-798761	PrEC	prostate:	n/a
21	chr4:798711-798761	T-47D	breast:	n/a
22	chr4:798711-798761	CMK	blood:	n/a
23	chr4:798711-798761	AG10803	skin:	n/a
24	chr4:798711-798761	GM12892	blood:	n/a
25	chr4:798711-798761	HRPEpiC	eye:	n/a
26	chr4:798711-798761	GM12878	blood:	n/a
27	chr4:798711-798761	AoSMC	blood vessel:	n/a
28	chr4:798711-798761	HCT-116	colon:	n/a
29	chr4:798711-798761	SKMC	muscle:	n/a
30	chr4:798711-798761	RPTEC	kidney:	n/a
31	chr4:798711-798761	HIPEpiC	eye:	n/a
32	chr4:798711-798761	BE2_C	brain:	n/a
33	chr4:798711-798761	H1-hESC	embryonic stem cell:	embryo
34	chr4:798711-798761	HPAEpiC	pulmonary alveolar:	n/a
35	chr4:798711-798761	NT2-D1	testis:	n/a
36	chr4:798711-798761	SAEC	small airway:	n/a
37	chr4:798711-798761	Hela-S3	cervix:	n/a
38	chr4:798711-798761	Jurkat	blood:	n/a
39	chr4:798711-798761	PANC-1	pancreas:	n/a
40	chr4:798711-798761	IMR90	lung:	fetal
41	chr4:798711-798761	HepG2	liver:	n/a
42	chr4:798711-798761	HEK293	kidney:	embryo
43	chr4:798711-798761	NB4	blood:	n/a
44	chr4:798711-798761	NHDF-neo	bronchial:	n/a
45	chr4:798711-798761	AG04449	skin:	fetal
46	chr4:798711-798761	SK-N-MC	brain:	n/a
47	chr4:798711-798761	HAEpiC	amniotic membrane:	n/a
48	chr4:798711-798761	AG09309	skin:	n/a
49	chr4:798711-798761	BJ	skin:	n/a
50	chr4:798711-798761	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:785727..788437-chr4:797674..799221,2	K562	blood:

No data

Variant related genes	Relation type
CPLX1	TF binding region
CPLX1	CpG island
ENSG00000168993	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7340883	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
5	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
9	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
10	nsv878254	chr4:708932-899143	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv878255	chr4:708932-1052488	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
12	nsv878257	chr4:712222-852313	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv878258	chr4:712222-1058358	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
14	nsv878259	chr4:713920-852313	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv878260	chr4:713920-1052488	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
16	nsv818207	chr4:753944-821490	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
17	nsv878261	chr4:756686-1047794	Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
18	nsv1007928	chr4:757263-813885	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
19	nsv1003219	chr4:769894-1105464	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
20	nsv878262	chr4:771587-865227	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
21	nsv878263	chr4:771587-1047794	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
22	nsv964736	chr4:777089-807477	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv432547	chr4:782301-1053930	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
24	nsv878264	chr4:790757-1047794	Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
25	nsv878265	chr4:793929-1024752	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
26	nsv878266	chr4:793929-1058358	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
27	nsv878267	chr4:795890-852313	Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
28	nsv878268	chr4:795890-925149	Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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
29	nsv878269	chr4:795890-1024752	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
30	nsv461147	chr4:798511-865227	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
31	nsv593223	chr4:798511-865227	Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:789600-816800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:795600-798800	Weak transcription	Pancreas	Pancrea
3	chr4:797800-799000	Enhancers	Gastric	stomach
4	chr4:798400-798800	Bivalent Enhancer	Placenta	Placenta
5	chr4:798600-798800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:798600-798800	Enhancers	Colonic Mucosa	Colon
7	chr4:798600-799000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr4:798600-799000	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
9	chr4:798600-799000	ZNF genes & repeats	Spleen	Spleen
10	chr4:798600-799000	Flanking Active TSS	HMEC	breast
11	chr4:798600-799200	Enhancers	Fetal Brain Male	brain

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