Variant report

Variant	rs532996591
Chromosome Location	chr4:48342558-48342559
allele	G/T
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	POLR2A	chr4:48342228-48344387	H1-hESC	embryonic stem cell:	n/a	n/a
2	PML	chr4:48342508-48344642	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:48342462-48343728	K562	blood:	n/a	n/a
4	UBTF	chr4:48342320-48345277	K562	blood:	n/a	n/a
5	KAP1	chr4:48342302-48343261	U2OS	brain:	n/a	n/a
6	POLR2A	chr4:48342555-48344209	MCF10A-Er-Src	breast:	n/a	n/a
7	NR2F2	chr4:48342426-48343797	K562	blood:	n/a	n/a
8	POLR2A	chr4:48342315-48344444	IMR90	lung:	n/a	n/a
9	SIN3A	chr4:48342275-48344914	H1-hESC	embryonic stem cell:	n/a	chr4:48344167-48344178 chr4:48343390-48343401 chr4:48343422-48343431 chr4:48344167-48344180 chr4:48343093-48343104
10	POLR2A	chr4:48342498-48344353	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr4:48342366-48344589	K562	blood:	n/a	n/a
12	TBP	chr4:48342551-48343291	Hela-S3	cervix:	n/a	n/a
13	PML	chr4:48342370-48344072	K562	blood:	n/a	n/a
14	CHD1	chr4:48342148-48345930	IMR90	lung:	n/a	n/a
15	MYC	chr4:48342295-48343743	NB4	blood:	n/a	n/a
16	RAD21	chr4:48342492-48344680	IMR90	lung:	n/a	chr4:48343576-48343589 chr4:48343424-48343438 chr4:48343397-48343411
17	MXI1	chr4:48342390-48345427	SK-N-SH	brain:	n/a	n/a
18	UBTF	chr4:48342477-48344421	K562	blood:	n/a	n/a
19	MAZ	chr4:48342367-48344790	IMR90	lung:	n/a	n/a
20	TEAD4	chr4:48342451-48342749	H1-hESC	embryonic stem cell:	n/a	n/a
21	TBL1XR1	chr4:48342445-48343283	K562	blood:	n/a	n/a
22	POLR2A	chr4:48342340-48344634	GM12892	blood:	n/a	n/a
23	MTA3	chr4:48342359-48343293	GM12878	blood:	n/a	n/a
24	POLR2A	chr4:48342329-48344353	K562	blood:	n/a	n/a
25	FOXA1	chr4:48342492-48343358	HepG2	liver:	n/a	n/a
26	MYC	chr4:48342232-48344427	K562	blood:	n/a	n/a
27	FOXM1	chr4:48342416-48344211	GM12878	blood:	n/a	n/a
28	MAX	chr4:48342370-48342664	H1-hESC	embryonic stem cell:	n/a	n/a
29	ZMIZ1	chr4:48342317-48343775	K562	blood:	n/a	n/a
30	POLR2A	chr4:48342299-48344339	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr4:48342486-48343818	K562	blood:	n/a	n/a
32	POLR2A	chr4:48342428-48344454	U87	brain:	n/a	n/a
33	RUNX3	chr4:48342529-48343744	GM12878	blood:	n/a	n/a
34	E2F4	chr4:48342525-48342663	MCF10A-Er-Src	breast:	n/a	n/a
35	EP300	chr4:48342258-48343664	K562	blood:	n/a	chr4:48343151-48343164 chr4:48343432-48343441 chr4:48343422-48343438 chr4:48343425-48343441
36	IRF1	chr4:48342493-48343701	K562	blood:	n/a	chr4:48343384-48343398 chr4:48343338-48343352 chr4:48342962-48342976 chr4:48343358-48343372
37	POLR2A	chr4:48342298-48344309	K562	blood:	n/a	n/a
38	POLR2A	chr4:48342507-48344529	GM18505	blood:	n/a	n/a
39	SPI1	chr4:48342556-48343509	HL-60	blood:	n/a	n/a
40	MTA3	chr4:48342241-48344676	GM12878	blood:	n/a	n/a
41	ZC3H11A	chr4:48342393-48342735	K562	blood:	n/a	n/a
42	POLR2A	chr4:48342413-48344389	HepG2	liver:	n/a	n/a
43	RELA	chr4:48342524-48343621	GM18951	blood:	n/a	n/a
44	HCFC1	chr4:48342397-48344213	K562	blood:	n/a	n/a
45	POLR2A	chr4:48342422-48344454	U87	brain:	n/a	n/a
46	POLR2A	chr4:48342143-48344570	PBDE	blood:	n/a	n/a
47	TBL1XR1	chr4:48342165-48343708	K562	blood:	n/a	n/a
48	POLR2A	chr4:48342470-48343754	U87	brain:	n/a	n/a
49	POLR2A	chr4:48342390-48343362	HUVEC	blood vessel:	n/a	n/a
50	ATF1	chr4:48342502-48343650	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:48342222..48343122-chr6:10417159..10417982,2	Hela-S3	cervix:
2	chr4:48341542..48343650-chr4:48378558..48381453,2	K562	blood:
3	chr4:48339667..48343042-chr4:48377720..48381453,4	K562	blood:
4	chr4:48270141..48273598-chr4:48341900..48344865,7	K562	blood:
5	chr4:48341515..48344236-chr4:48506268..48509029,2	K562	blood:
6	chr4:48341290..48343185-chr4:52708590..52710145,2	K562	blood:
7	chr4:48309394..48311856-chr4:48341157..48342687,2	K562	blood:
8	chr4:48270358..48273390-chr4:48340605..48344777,4	MCF-7	breast:
9	chr4:48321470..48323955-chr4:48341055..48342680,2	K562	blood:
10	chr4:48341909..48343469-chr4:48483589..48486077,2	K562	blood:
11	chr4:48312456..48314197-chr4:48341222..48342911,2	K562	blood:

Variant related genes	Relation type
SLAIN2	TF binding region
ENSG00000109171	Chromatin interaction
ENSG00000145248	Chromatin interaction
ENSG00000075539	Chromatin interaction
ENSG00000135605	Chromatin interaction
ENSG00000137203	Chromatin interaction
ENSG00000109184	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	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv3377721	chr4:48342220-48345068	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48334200-48342600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:48341400-48342600	Flanking Active TSS	K562	blood
3	chr4:48341600-48342600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:48341600-48342600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
5	chr4:48341800-48342600	Flanking Active TSS	NHLF	lung
6	chr4:48342000-48342600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr4:48342000-48342600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:48342000-48342600	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr4:48342000-48342600	Flanking Active TSS	Fetal Heart	heart
10	chr4:48342000-48342600	Flanking Active TSS	NHDF-Ad	bronchial
11	chr4:48342000-48342800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr4:48342000-48342800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr4:48342000-48343000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr4:48342000-48343000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr4:48342000-48345400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr4:48342000-48345400	Active TSS	Fetal Intestine Large	intestine
17	chr4:48342000-48345600	Active TSS	Fetal Intestine Small	intestine
18	chr4:48342200-48342600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:48342200-48342600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:48342200-48342600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:48342200-48342600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr4:48342200-48342600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr4:48342200-48342600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:48342200-48342600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr4:48342200-48342600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr4:48342200-48342600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr4:48342200-48342600	Flanking Active TSS	Liver	Liver
28	chr4:48342200-48342600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr4:48342200-48342600	Flanking Active TSS	Fetal Kidney	kidney
30	chr4:48342200-48342600	Flanking Active TSS	Fetal Lung	lung
31	chr4:48342200-48342600	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr4:48342200-48342600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr4:48342200-48342600	Flanking Active TSS	Stomach Mucosa	stomach
34	chr4:48342200-48342600	Flanking Active TSS	Hela-S3	cervix
35	chr4:48342200-48342600	Flanking Active TSS	HepG2	liver
36	chr4:48342200-48342600	Flanking Active TSS	HMEC	breast
37	chr4:48342200-48342600	Flanking Active TSS	Osteobl	bone
38	chr4:48342200-48342800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr4:48342200-48342800	Flanking Active TSS	A549	lung
40	chr4:48342200-48342800	Flanking Active TSS	Dnd41	blood
41	chr4:48342200-48342800	Flanking Active TSS	HSMM	muscle
42	chr4:48342200-48342800	Flanking Active TSS	HSMMtube	muscle
43	chr4:48342200-48342800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr4:48342200-48342800	Flanking Active TSS	NH-A	brain
45	chr4:48342200-48343000	Flanking Active TSS	HUVEC	blood vessel
46	chr4:48342200-48343000	Flanking Active TSS	NHEK	skin
47	chr4:48342200-48343200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:48342200-48343200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr4:48342200-48343200	Flanking Active TSS	GM12878-XiMat	blood
50	chr4:48342200-48343600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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