Variant report

Variant	rs543615349
Chromosome Location	chr4:74123273-74123274
allele	-/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	TBL1XR1	chr4:74122853-74123363	K562	blood:	n/a	n/a
3	POLR2A	chr4:74122863-74125611	K562	blood:	n/a	n/a
4	MAX	chr4:74122935-74125527	GM12878	blood:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74124421-74124430 chr4:74123797-74123806
5	WRNIP1	chr4:74122912-74124004	GM12878	blood:	n/a	n/a
6	RAD21	chr4:74122820-74123280	GM12878	blood:	n/a	n/a
7	MAX	chr4:74123125-74123964	H1-hESC	embryonic stem cell:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74123797-74123806
8	CTCF	chr4:74123240-74123390	HUVEC	blood vessel:	n/a	n/a
9	TBP	chr4:74123079-74124040	HepG2	liver:	n/a	n/a
10	SP1	chr4:74123147-74123679	HepG2	liver:	n/a	n/a
11	BHLHE40	chr4:74122871-74123860	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:74123028-74123298	MCF10A-Er-Src	breast:	n/a	n/a
13	MYC	chr4:74122982-74123942	MCF10A-Er-Src	breast:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74123797-74123806
14	RCOR1	chr4:74123146-74123638	HepG2	liver:	n/a	n/a
15	CTCF	chr4:74122932-74123278	MCF-7	breast:	n/a	n/a
16	POLR2A	chr4:74123010-74126012	Hela-S3	cervix:	n/a	n/a
17	HEY1	chr4:74122913-74125525	HepG2	liver:	n/a	n/a
18	POLR2A	chr4:74122715-74125687	H1-hESC	embryonic stem cell:	n/a	n/a
19	GTF2F1	chr4:74122906-74123615	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr4:74122910-74126122	IMR90	lung:	n/a	n/a
21	POLR2A	chr4:74122469-74126057	GM12878	blood:	n/a	n/a
22	CEBPB	chr4:74122959-74123592	HepG2	liver:	n/a	n/a
23	CEBPB	chr4:74122908-74123567	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr4:74123260-74123410	WI-38	lung:	n/a	n/a
25	PML	chr4:74122895-74123590	K562	blood:	n/a	n/a
26	POLR2A	chr4:74122906-74125639	K562	blood:	n/a	n/a
27	MXI1	chr4:74122089-74126209	IMR90	lung:	n/a	chr4:74122466-74122481
28	NFIC	chr4:74122801-74124043	GM12878	blood:	n/a	n/a
29	POLR2A	chr4:74122595-74126208	GM12891	blood:	n/a	n/a
30	CTCF	chr4:74122815-74123273	K562	blood:	n/a	n/a
31	TBP	chr4:74122928-74125674	K562	blood:	n/a	n/a
32	CHD1	chr4:74122976-74124021	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr4:74123060-74123307	MCF10A-Er-Src	breast:	n/a	n/a
34	MYC	chr4:74122881-74125628	K562	blood:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74124421-74124430 chr4:74123797-74123806
35	POLR2A	chr4:74122972-74123589	PFSK-1	brain:	n/a	n/a
36	STAT3	chr4:74123135-74123278	MCF10A-Er-Src	breast:	n/a	n/a
37	EP300	chr4:74122982-74123491	HepG2	liver:	n/a	n/a
38	ZNF143	chr4:74122925-74123454	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr4:74122913-74123402	GM12878	blood:	n/a	n/a
40	CTCF	chr4:74122628-74123906	A549	lung:	n/a	n/a
41	MYC	chr4:74122878-74125497	K562	blood:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74124421-74124430 chr4:74123797-74123806
42	ZNF263	chr4:74122932-74124372	HEK293-T-REx	kidney:	n/a	chr4:74123965-74123974 chr4:74123958-74123967
43	CEBPB	chr4:74122816-74123376	A549	lung:	n/a	n/a
44	ZNF143	chr4:74122868-74123408	K562	blood:	n/a	n/a
45	MYC	chr4:74122893-74125593	K562	blood:	n/a	chr4:74123458-74123477 chr4:74123462-74123473 chr4:74124421-74124430 chr4:74123797-74123806
46	MYBL2	chr4:74122806-74123680	HepG2	liver:	n/a	n/a
47	RAD21	chr4:74122850-74123290	MCF-7	breast:	n/a	n/a
48	SMC3	chr4:74122795-74123596	SK-N-SH	brain:	n/a	n/a
49	MXI1	chr4:74123040-74124471	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr4:74122975-74125739	HepG2	liver:	n/a	n/a

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	chr4:73967876..73970558-chr4:74123013..74124947,2	MCF-7	breast:
4	chr4:73992240..73994706-chr4:74121884..74123760,2	MCF-7	breast:
5	chr4:74122758..74124743-chr4:74269712..74272494,2	K562	blood:
6	chr4:73932413..73938405-chr4:74120693..74126649,20	K562	blood:
7	chr4:74086092..74089125-chr4:74123157..74126277,4	MCF-7	breast:
8	chr4:74086715..74092062-chr4:74122892..74125871,6	MCF-7	breast:
9	chr4:73933853..73938156-chr4:74122325..74126609,11	MCF-7	breast:
10	chr4:74018332..74023301-chr4:74122420..74126136,8	MCF-7	breast:
11	chr4:73932730..73938383-chr4:74120374..74126369,19	MCF-7	breast:
12	chr17:79823864..79825760-chr4:74123183..74125503,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000250220	TF binding region
ENSG00000132466	Chromatin interaction
ENSG00000163626	Chromatin interaction
ENSG00000163631	Chromatin interaction
ENSG00000262413	Chromatin interaction
ENSG00000269559	Chromatin interaction
ENSG00000163738	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3412985	chr4:74123113-74125961	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74087800-74123400	Weak transcription	Gastric	stomach
2	chr4:74116400-74123400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:74121200-74124000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:74121600-74125400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:74121600-74126000	Active TSS	Right Ventricle	heart
6	chr4:74121800-74123600	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr4:74121800-74123800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:74122000-74124000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:74122000-74124000	Active TSS	Right Atrium	heart
10	chr4:74122000-74125600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:74122000-74125800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr4:74122000-74125800	Active TSS	Stomach Smooth Muscle	stomach
13	chr4:74122000-74126200	Active TSS	Aorta	Aorta
14	chr4:74122200-74123600	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr4:74122200-74123800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:74122200-74124000	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr4:74122200-74125200	Active TSS	Brain Angular Gyrus	brain
18	chr4:74122200-74125800	Active TSS	HMEC	breast
19	chr4:74122200-74126200	Active TSS	Psoas Muscle	Psoas
20	chr4:74122200-74126400	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr4:74122200-74126400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:74122400-74123600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr4:74122400-74123600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr4:74122400-74123600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr4:74122400-74123800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr4:74122400-74123800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr4:74122400-74124000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr4:74122400-74125600	Active TSS	H1 Cell Line	embryonic stem cell
29	chr4:74122400-74125600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:74122400-74125800	Active TSS	Fetal Intestine Small	intestine
31	chr4:74122400-74125800	Active TSS	Ovary	ovary
32	chr4:74122400-74126000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:74122400-74126000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:74122400-74126000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr4:74122400-74126000	Active TSS	Colonic Mucosa	Colon
36	chr4:74122400-74126200	Active TSS	NHLF	lung
37	chr4:74122400-74126600	Active TSS	GM12878-XiMat	blood
38	chr4:74122600-74123800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:74122600-74124000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr4:74122600-74124200	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr4:74122600-74125400	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr4:74122600-74125400	Active TSS	Thymus	Thymus
43	chr4:74122600-74125800	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr4:74122600-74125800	Active TSS	Fetal Muscle Leg	muscle
45	chr4:74122600-74125800	Active TSS	Fetal Thymus	thymus
46	chr4:74122600-74125800	Active TSS	A549	lung
47	chr4:74122600-74125800	Active TSS	HSMMtube	muscle
48	chr4:74122600-74125800	Active TSS	NHDF-Ad	bronchial
49	chr4:74122600-74126000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:74122600-74126400	Active TSS	Fetal Brain Male	brain

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