Variant report

Variant	rs534252962
Chromosome Location	chr4:7044093-7044094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr4:7043857-7045070	H1-hESC	embryonic stem cell:	n/a	n/a
2	ELF1	chr4:7044038-7044392	K562	blood:	n/a	n/a
3	MAX	chr4:7044091-7045077	NB4	blood:	n/a	n/a
4	RCOR1	chr4:7044035-7045383	K562	blood:	n/a	n/a
5	ZNF263	chr4:7043963-7044930	HEK293-T-REx	kidney:	n/a	n/a
6	EGR1	chr4:7044073-7044490	K562	blood:	n/a	chr4:7044283-7044297
7	SPI1	chr4:7043920-7044464	HL-60	blood:	n/a	n/a
8	EGR1	chr4:7044067-7044520	K562	blood:	n/a	chr4:7044283-7044297
9	POLR2A	chr4:7043984-7044304	MCF-7	breast:	n/a	n/a
10	RCOR1	chr4:7044017-7044913	K562	blood:	n/a	n/a
11	SIN3AK20	chr4:7044079-7045149	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr4:7043917-7044259	K562	blood:	n/a	n/a
13	POLR2A	chr4:7044006-7044463	HUVEC	blood vessel:	n/a	n/a
14	CTCF	chr4:7043960-7044110	AG04449	skin:	n/a	n/a
15	MAZ	chr4:7044034-7045862	K562	blood:	n/a	n/a
16	RFX5	chr4:7043974-7045278	SK-N-SH	brain:	n/a	chr4:7044812-7044821
17	RAD21	chr4:7044077-7045191	IMR90	lung:	n/a	n/a
18	POLR2A	chr4:7043958-7044297	MCF-7	breast:	n/a	n/a
19	POLR2A	chr4:7044030-7045885	MCF10A-Er-Src	breast:	n/a	n/a
20	SPI1	chr4:7044027-7044516	HL-60	blood:	n/a	n/a
21	SIN3AK20	chr4:7043893-7045113	MCF-7	breast:	n/a	n/a
22	ELF1	chr4:7044088-7045092	K562	blood:	n/a	chr4:7044742-7044754 chr4:7044669-7044681
23	MXI1	chr4:7043334-7046881	SK-N-SH	brain:	n/a	n/a
24	MAX	chr4:7044053-7045118	K562	blood:	n/a	n/a
25	MAX	chr4:7044067-7045122	K562	blood:	n/a	n/a
26	MAX	chr4:7044071-7045869	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr4:7043788-7044245	H1-neurons	neurons:	n/a	n/a
28	MTA3	chr4:7043877-7044334	GM12878	blood:	n/a	n/a
29	BACH1	chr4:7044082-7044194	H1-hESC	embryonic stem cell:	n/a	n/a
30	EGR1	chr4:7044024-7044464	H1-hESC	embryonic stem cell:	n/a	chr4:7044283-7044297
31	SPI1	chr4:7044077-7044349	K562	blood:	n/a	n/a
32	UBTF	chr4:7044071-7044834	K562	blood:	n/a	n/a
33	E2F6	chr4:7044091-7045056	K562	blood:	n/a	n/a
34	MAZ	chr4:7043799-7045962	IMR90	lung:	n/a	n/a
35	E2F6	chr4:7043919-7046018	K562	blood:	n/a	chr4:7045104-7045113
36	HCFC1	chr4:7044011-7045169	K562	blood:	n/a	n/a
37	UBTF	chr4:7043815-7046305	K562	blood:	n/a	n/a
38	TBL1XR1	chr4:7043994-7045018	GM12878	blood:	n/a	n/a
39	ELF1	chr4:7043671-7045060	GM12878	blood:	n/a	chr4:7044742-7044754 chr4:7044669-7044681
40	MXI1	chr4:7043287-7045186	IMR90	lung:	n/a	n/a
41	MYC	chr4:7044069-7044230	K562	blood:	n/a	n/a
42	MAX	chr4:7044080-7045090	SK-N-SH	brain:	n/a	n/a
43	REST	chr4:7043627-7046079	H1-neurons	neurons:	n/a	chr4:7044703-7044710
44	POLR2A	chr4:7043920-7044581	HUVEC	blood vessel:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:58345437..58346957-chr4:7043706..7045674,2	K562	blood:
2	chr4:6999677..7002587-chr4:7042055..7044238,2	K562	blood:
3	chr4:6987653..6990708-chr4:7043238..7045970,4	MCF-7	breast:
4	chr4:7043790..7046279-chr4:7102506..7105292,2	K562	blood:
5	chr4:7041999..7051916-chr4:7066728..7075643,37	MCF-7	breast:
6	chr4:7042421..7051559-chr4:7062214..7072674,24	MCF-7	breast:
7	chr4:6711584..6713629-chr4:7043225..7044994,2	MCF-7	breast:
8	chr4:6909683..6913053-chr4:7043553..7046923,6	MCF-7	breast:
9	chr4:6999660..7002155-chr4:7043088..7045317,3	MCF-7	breast:

No data

Variant related genes	Relation type
TADA2B	TF binding region
ENSG00000186660	Chromatin interaction
ENSG00000132405	Chromatin interaction
ENSG00000110031	Chromatin interaction
ENSG00000109519	Chromatin interaction
ENSG00000245468	Chromatin interaction
ENSG00000178988	Chromatin interaction
ENSG00000255073	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 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
6	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv878532	chr4:7010504-7055603	Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv878533	chr4:7032180-7063524	Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv4217	chr4:7035512-7080230	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
11	nsv593548	chr4:7043099-7045945	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
12	esv3344080	chr4:7043676-7046224	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
13	esv14348	chr4:7043979-7045994	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
14	esv1801315	chr4:7044007-7052777	Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	esv1835149	chr4:7044007-7052777	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7013200-7044400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr4:7042600-7044200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr4:7043200-7044200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:7043200-7044200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:7043200-7044200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:7043200-7044200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
7	chr4:7043200-7044600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr4:7043200-7044600	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr4:7043400-7044200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:7043400-7044200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:7043400-7044200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
12	chr4:7043400-7044200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:7043400-7044200	Flanking Active TSS	Colonic Mucosa	Colon
14	chr4:7043400-7044200	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr4:7043400-7044200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr4:7043400-7044400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:7043400-7044400	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr4:7043400-7044600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr4:7043400-7046600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr4:7043600-7044200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:7043600-7044200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
22	chr4:7043600-7044200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:7043600-7044200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:7043600-7044200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:7043600-7044200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr4:7043600-7044200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:7043600-7044200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr4:7043600-7044200	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr4:7043600-7044200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr4:7043600-7044200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr4:7043600-7044200	Flanking Active TSS	Esophagus	oesophagus
32	chr4:7043600-7044200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr4:7043600-7044200	Flanking Active TSS	Fetal Lung	lung
34	chr4:7043600-7044200	Flanking Active TSS	Fetal Muscle Trunk	muscle
35	chr4:7043600-7044200	Flanking Active TSS	Fetal Stomach	stomach
36	chr4:7043600-7044200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr4:7043600-7044200	Flanking Active TSS	HSMMtube	muscle
38	chr4:7043600-7044200	Flanking Active TSS	HUVEC	blood vessel
39	chr4:7043600-7044200	Flanking Active TSS	NH-A	brain
40	chr4:7043600-7044200	Flanking Active TSS	NHLF	lung
41	chr4:7043600-7044200	Flanking Active TSS	Osteobl	bone
42	chr4:7043600-7044400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
43	chr4:7043600-7044400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
44	chr4:7043600-7044400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:7043600-7044400	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr4:7043600-7044600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr4:7043600-7044600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:7043600-7044600	Flanking Active TSS	Liver	Liver
49	chr4:7043600-7044600	Flanking Active TSS	HMEC	breast
50	chr4:7043600-7044800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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