Variant report

Variant	rs4234794
Chromosome Location	chr4:6988165-6988166
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr4:6987938-6989550	NB4	blood:	n/a	n/a
2	CREB1	chr4:6988164-6989554	HepG2	liver:	n/a	n/a
3	RCOR1	chr4:6988072-6989222	Hela-S3	cervix:	n/a	n/a
4	MAX	chr4:6987997-6989679	A549	lung:	n/a	n/a
5	MAZ	chr4:6987964-6989416	K562	blood:	n/a	n/a
6	EP300	chr4:6988030-6989052	K562	blood:	n/a	n/a
7	MYC	chr4:6987896-6989658	K562	blood:	n/a	n/a
8	MYC	chr4:6987868-6989456	K562	blood:	n/a	n/a
9	MXI1	chr4:6988080-6989415	K562	blood:	n/a	n/a
10	POLR2A	chr4:6988099-6989452	K562	blood:	n/a	n/a
11	CTCF	chr4:6988140-6988290	HFF	foreskin:	n/a	n/a
12	HEY1	chr4:6987905-6988892	K562	blood:	n/a	chr4:6988819-6988834
13	HCFC1	chr4:6987864-6989690	Hela-S3	cervix:	n/a	n/a
14	MYC	chr4:6987921-6989792	MCF10A-Er-Src	breast:	n/a	n/a
15	MAX	chr4:6987834-6989492	Hela-S3	cervix:	n/a	n/a
16	SIN3AK20	chr4:6988052-6989573	MCF-7	breast:	n/a	n/a
17	YY1	chr4:6988163-6988379	K562	blood:	n/a	n/a
18	CHD2	chr4:6988116-6989091	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr4:6988091-6988351	HepG2	liver:	n/a	n/a
20	JUND	chr4:6987802-6989378	K562	blood:	n/a	n/a
21	POLR2A	chr4:6987953-6989443	GM18505	blood:	n/a	n/a
22	TFAP2C	chr4:6988019-6988859	Hela-S3	cervix:	n/a	n/a
23	RCOR1	chr4:6987894-6989308	K562	blood:	n/a	n/a
24	TBP	chr4:6988021-6988875	Hela-S3	cervix:	n/a	n/a
25	MAX	chr4:6988017-6989654	HCT-116	colon:	n/a	n/a
26	POLR2A	chr4:6987923-6989220	GM12878	blood:	n/a	n/a
27	POLR2A	chr4:6987854-6989224	K562	blood:	n/a	n/a
28	POLR2A	chr4:6988124-6989430	K562	blood:	n/a	n/a
29	HCFC1	chr4:6988161-6989325	K562	blood:	n/a	n/a
30	POLR2A	chr4:6988149-6989336	GM15510	blood:	n/a	n/a
31	TBP	chr4:6988112-6989010	K562	blood:	n/a	n/a
32	MAX	chr4:6988144-6989595	ECC-1	luminal epithelium:	n/a	n/a
33	MAX	chr4:6988125-6989408	K562	blood:	n/a	n/a
34	TEAD4	chr4:6987983-6988859	K562	blood:	n/a	n/a
35	MAX	chr4:6988142-6989490	HepG2	liver:	n/a	n/a
36	MXI1	chr4:6988135-6989835	Hela-S3	cervix:	n/a	n/a
37	CREB1	chr4:6988111-6989447	K562	blood:	n/a	n/a
38	BACH1	chr4:6988165-6988314	K562	blood:	n/a	n/a
39	MAX	chr4:6988094-6989588	ECC-1	luminal epithelium:	n/a	n/a
40	PML	chr4:6988077-6989311	GM12878	blood:	n/a	chr4:6988537-6988545
41	MAX	chr4:6988112-6989642	SK-N-SH	brain:	n/a	n/a
42	TCF12	chr4:6988121-6989012	ECC-1	luminal epithelium:	n/a	n/a
43	ZC3H11A	chr4:6987880-6988750	K562	blood:	n/a	n/a
44	MAX	chr4:6987928-6989697	Hela-S3	cervix:	n/a	n/a
45	MAX	chr4:6987880-6989579	NB4	blood:	n/a	n/a
46	POLR2A	chr4:6988095-6989482	HL-60	blood:	n/a	n/a
47	POLR2A	chr4:6987945-6989538	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr4:6987999-6989388	GM12878	blood:	n/a	n/a
49	POLR2A	chr4:6988120-6988936	U87	brain:	n/a	n/a
50	MXI1	chr4:6987387-6990610	SK-N-SH	brain:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6987057..6988717-chr4:7023046..7025909,2	K562	blood:
2	chr4:6987851..6990703-chr4:7053695..7056080,2	MCF-7	breast:
3	chr4:6909306..6913096-chr4:6986692..6990153,8	K562	blood:
4	chr4:6987263..6989293-chr4:7068529..7070966,2	MCF-7	breast:
5	chr4:6716379..6718231-chr4:6987707..6990478,2	K562	blood:
6	chr4:6783058..6785294-chr4:6987568..6991326,3	MCF-7	breast:
7	chr4:6987873..6988804-chr5:133860180..133861147,2	Hela-S3	cervix:
8	chr4:6909371..6913138-chr4:6987040..6991863,16	MCF-7	breast:
9	chr4:6987653..6990708-chr4:7043238..7045970,4	MCF-7	breast:
10	chr4:6715191..6718231-chr4:6987509..6990478,3	K562	blood:
11	chr4:6987138..6988665-chr4:7067357..7069281,2	MCF-7	breast:
12	chr4:6909040..6912883-chr4:6987028..6993211,15	MCF-7	breast:
13	chr4:6981170..6985080-chr4:6985804..6988739,4	MCF-7	breast:
14	chr4:6909508..6912885-chr4:6987339..6990016,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC96-2	chr4:6987654-6988772	NONHSAT095029

No data

Variant related genes	Relation type
TBC1D14	TF binding region
ENSG00000109519	Chromatin interaction
ENSG00000170871	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000186222	Chromatin interaction
ENSG00000173013	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13113578	1.00[AFR][1000 genomes]
rs4689588	1.00[AFR][1000 genomes]
rs62289160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62289165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6832413	1.00[AFR][1000 genomes]
rs6841824	1.00[AFR][1000 genomes]
rs6846823	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7665188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7673889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6986800-6988600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr4:6986800-6989200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr4:6987000-6988400	Active TSS	Brain Germinal Matrix	brain
4	chr4:6987000-6989000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:6987000-6989800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:6987200-6988200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr4:6987200-6988200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:6987200-6988200	Flanking Active TSS	K562	blood
9	chr4:6987200-6988200	Flanking Active TSS	NHEK	skin
10	chr4:6987200-6988400	Flanking Active TSS	Dnd41	blood
11	chr4:6987200-6989400	Active TSS	Brain Angular Gyrus	brain
12	chr4:6987200-6989800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:6987400-6988200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:6987400-6988200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr4:6987400-6988200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:6987400-6988200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:6987400-6988200	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr4:6987400-6988200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr4:6987400-6988200	Flanking Active TSS	Fetal Intestine Small	intestine
20	chr4:6987400-6988200	Flanking Active TSS	Fetal Kidney	kidney
21	chr4:6987400-6988200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr4:6987400-6988200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr4:6987400-6988200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr4:6987400-6988200	Flanking Active TSS	NHLF	lung
25	chr4:6987400-6988200	Flanking Active TSS	Osteobl	bone
26	chr4:6987400-6988400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr4:6987400-6988400	Flanking Active TSS	Liver	Liver
28	chr4:6987400-6988400	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr4:6987400-6988400	Flanking Active TSS	HMEC	breast
30	chr4:6987400-6988400	Flanking Active TSS	HUVEC	blood vessel
31	chr4:6987600-6988200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:6987600-6988200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr4:6987600-6988200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr4:6987600-6988200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr4:6987600-6988200	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr4:6987600-6988200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr4:6987600-6988200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr4:6987600-6988200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr4:6987600-6988200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr4:6987600-6988200	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr4:6987600-6988200	Flanking Active TSS	Fetal Brain Female	brain
42	chr4:6987600-6988200	Flanking Active TSS	Fetal Heart	heart
43	chr4:6987600-6988200	Flanking Active TSS	Fetal Intestine Large	intestine
44	chr4:6987600-6988200	Flanking Active TSS	Fetal Lung	lung
45	chr4:6987600-6988200	Flanking Active TSS	Fetal Stomach	stomach
46	chr4:6987600-6988200	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr4:6987600-6988200	Flanking Active TSS	GM12878-XiMat	blood
48	chr4:6987600-6988200	Flanking Active TSS	Hela-S3	cervix
49	chr4:6987600-6988200	Flanking Active TSS	NHDF-Ad	bronchial
50	chr4:6987600-6988400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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