Variant report

Variant	rs377444384
Chromosome Location	chr4:74122967-74122968
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:212)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:212 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr4:74122751-74125776	IMR90	lung:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74124421-74124430 chr4:74123797-74123806
2	RAD21	chr4:74122913-74123245	K562	blood:	n/a	n/a
3	TBL1XR1	chr4:74122853-74123363	K562	blood:	n/a	n/a
4	POLR2A	chr4:74122863-74125611	K562	blood:	n/a	n/a
5	MAX	chr4:74122935-74125527	GM12878	blood:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74124421-74124430 chr4:74123797-74123806
6	WRNIP1	chr4:74122912-74124004	GM12878	blood:	n/a	n/a
7	CTCF	chr4:74122920-74123070	GM12870	blood:	n/a	n/a
8	CTCF	chr4:74122940-74123090	BJ	skin:	n/a	n/a
9	RAD21	chr4:74122820-74123280	GM12878	blood:	n/a	n/a
10	SMC3	chr4:74122893-74123234	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr4:74122960-74123110	GM12867	blood:	n/a	n/a
12	CTCF	chr4:74122957-74123167	MCF-7	breast:	n/a	n/a
13	RCOR1	chr4:74122938-74123244	K562	blood:	n/a	n/a
14	CTCF	chr4:74122960-74123110	GM12870	blood:	n/a	n/a
15	CTCF	chr4:74122964-74123173	GM13977	blood:	n/a	n/a
16	CTCF	chr4:74122961-74123173	GM19239	blood:	n/a	n/a
17	CTCF	chr4:74122928-74123213	Pancreas_OC	pancreas:	n/a	n/a
18	CTCF	chr4:74122954-74123166	A549	lung:	n/a	n/a
19	BHLHE40	chr4:74122871-74123860	GM12878	blood:	n/a	n/a
20	RAD21	chr4:74122885-74123228	GM12878	blood:	n/a	n/a
21	ZNF143	chr4:74122865-74123254	GM12878	blood:	n/a	n/a
22	CTCF	chr4:74122960-74123110	GM12872	blood:	n/a	n/a
23	FOS	chr4:74122896-74123160	MCF10A-Er-Src	breast:	n/a	chr4:74123146-74123154
24	CUX1	chr4:74122838-74123256	GM12878	blood:	n/a	n/a
25	CTCF	chr4:74122932-74123278	MCF-7	breast:	n/a	n/a
26	CTCF	chr4:74122940-74123090	NHLF	lung:	n/a	n/a
27	HEY1	chr4:74122913-74125525	HepG2	liver:	n/a	n/a
28	CTCF	chr4:74122921-74123197	T-47D	breast:	n/a	n/a
29	POLR2A	chr4:74122715-74125687	H1-hESC	embryonic stem cell:	n/a	n/a
30	GTF2F1	chr4:74122906-74123615	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr4:74122910-74126122	IMR90	lung:	n/a	n/a
32	POLR2A	chr4:74122469-74126057	GM12878	blood:	n/a	n/a
33	POLR2A	chr4:74122844-74123248	SK-N-SH	brain:	n/a	n/a
34	CTCF	chr4:74122940-74123090	GM12873	blood:	n/a	n/a
35	POLR2A	chr4:74122907-74123250	HCT-116	colon:	n/a	n/a
36	EP300	chr4:74122857-74123198	GM12878	blood:	n/a	n/a
37	CEBPB	chr4:74122959-74123592	HepG2	liver:	n/a	n/a
38	CEBPB	chr4:74122908-74123567	Hela-S3	cervix:	n/a	n/a
39	PML	chr4:74122895-74123590	K562	blood:	n/a	n/a
40	CTCF	chr4:74122960-74123110	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr4:74122906-74125639	K562	blood:	n/a	n/a
42	MXI1	chr4:74122089-74126209	IMR90	lung:	n/a	chr4:74122466-74122481
43	CTCF	chr4:74122937-74123202	MCF-7	breast:	n/a	n/a
44	NFIC	chr4:74122801-74124043	GM12878	blood:	n/a	n/a
45	CTCF	chr4:74122818-74123256	A549	lung:	n/a	n/a
46	POLR2A	chr4:74122595-74126208	GM12891	blood:	n/a	n/a
47	CTCF	chr4:74122947-74123197	GM19238	blood:	n/a	n/a
48	CTCF	chr4:74122944-74123175	Kidney_OC	kidney:	n/a	n/a
49	CTCF	chr4:74122815-74123273	K562	blood:	n/a	n/a
50	TBP	chr4:74122928-74125674	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:73929823..73938112-chr4:74120693..74129342,27	K562	blood:
2	chr4:74122515..74124717-chr4:75023066..75024638,2	K562	blood:
3	chr4:73992240..73994706-chr4:74121884..74123760,2	MCF-7	breast:
4	chr4:74122758..74124743-chr4:74269712..74272494,2	K562	blood:
5	chr4:73932413..73938405-chr4:74120693..74126649,20	K562	blood:
6	chr4:74086715..74092062-chr4:74122892..74125871,6	MCF-7	breast:
7	chr4:73933853..73938156-chr4:74122325..74126609,11	MCF-7	breast:
8	chr4:74018332..74023301-chr4:74122420..74126136,8	MCF-7	breast:
9	chr4:73932730..73938383-chr4:74120374..74126369,19	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000250220	TF binding region
ENSG00000163738	Chromatin interaction
ENSG00000163626	Chromatin interaction
ENSG00000269559	Chromatin interaction
ENSG00000132466	Chromatin interaction
ENSG00000163631	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000509	chr4:73968978-74206949	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	esv3350599	chr4:74122400-74142462	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74056000-74123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:74059600-74123000	Weak transcription	Esophagus	oesophagus
3	chr4:74078200-74123000	Weak transcription	Lung	lung
4	chr4:74087800-74123400	Weak transcription	Gastric	stomach
5	chr4:74101000-74123000	Weak transcription	Placenta	Placenta
6	chr4:74106600-74123000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:74111400-74123000	Weak transcription	Pancreas	Pancrea
8	chr4:74112400-74123200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:74116400-74123400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:74116800-74123000	Weak transcription	Left Ventricle	heart
11	chr4:74121200-74124000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:74121600-74123000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr4:74121600-74125400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:74121600-74126000	Active TSS	Right Ventricle	heart
15	chr4:74121800-74123000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
16	chr4:74121800-74123000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:74121800-74123000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
18	chr4:74121800-74123000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:74121800-74123000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr4:74121800-74123000	Flanking Active TSS	HUVEC	blood vessel
21	chr4:74121800-74123000	Flanking Active TSS	Osteobl	bone
22	chr4:74121800-74123600	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr4:74121800-74123800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:74122000-74123000	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:74122000-74123000	Flanking Active TSS	Fetal Heart	heart
26	chr4:74122000-74123000	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr4:74122000-74124000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:74122000-74124000	Active TSS	Right Atrium	heart
29	chr4:74122000-74125600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:74122000-74125800	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr4:74122000-74125800	Active TSS	Stomach Smooth Muscle	stomach
32	chr4:74122000-74126200	Active TSS	Aorta	Aorta
33	chr4:74122200-74123000	Enhancers	Primary B cells from peripheral blood	blood
34	chr4:74122200-74123000	Active TSS	HepG2	liver
35	chr4:74122200-74123600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr4:74122200-74123800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:74122200-74124000	Flanking Active TSS	Primary hematopoietic stem cells	blood
38	chr4:74122200-74125200	Active TSS	Brain Angular Gyrus	brain
39	chr4:74122200-74125800	Active TSS	HMEC	breast
40	chr4:74122200-74126200	Active TSS	Psoas Muscle	Psoas
41	chr4:74122200-74126400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr4:74122200-74126400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr4:74122400-74123000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr4:74122400-74123000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr4:74122400-74123000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr4:74122400-74123000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr4:74122400-74123000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:74122400-74123000	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr4:74122400-74123000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr4:74122400-74123200	Enhancers	Stomach Mucosa	stomach

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