Variant report

Variant	rs4444903
Chromosome Location	chr4:110834110-110834111
allele	A/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	FOS	chr4:110833869-110834157	MCF10A-Er-Src	breast:	n/a	chr4:110834022-110834029 chr4:110834019-110834031 chr4:110834021-110834029 chr4:110834020-110834030 chr4:110834021-110834029
2	POLR2A	chr4:110833931-110834132	H1-hESC	embryonic stem cell:	n/a	n/a
3	KAP1	chr4:110833755-110834457	U2OS	brain:	n/a	n/a
4	POLR2A	chr4:110833768-110834242	SK-N-MC	brain:	n/a	n/a
5	ATF1	chr4:110833777-110834221	K562	blood:	n/a	n/a
6	TBP	chr4:110834000-110834173	H1-hESC	embryonic stem cell:	n/a	n/a
7	UBTF	chr4:110833865-110834370	K562	blood:	n/a	n/a
8	EP300	chr4:110833859-110834591	K562	blood:	n/a	chr4:110834020-110834029
9	MAFK	chr4:110833845-110834235	K562	blood:	n/a	chr4:110834019-110834029
10	ZNF263	chr4:110833690-110834202	HEK293-T-REx	kidney:	n/a	n/a
11	FOS	chr4:110833877-110834171	MCF10A-Er-Src	breast:	n/a	chr4:110834022-110834029 chr4:110834019-110834031 chr4:110834021-110834029 chr4:110834020-110834030 chr4:110834021-110834029
12	TBP	chr4:110833934-110834201	Hela-S3	cervix:	n/a	n/a
13	IRF1	chr4:110833882-110834185	K562	blood:	n/a	chr4:110834135-110834149 chr4:110833986-110834000 chr4:110834041-110834051 chr4:110834131-110834145 chr4:110834039-110834053 chr4:110833936-110833953 chr4:110834129-110834146 chr4:110834042-110834053
14	POLR2A	chr4:110833869-110834192	U87	brain:	n/a	n/a
15	POLR2A	chr4:110833869-110834225	U87	brain:	n/a	n/a
16	POLR2A	chr4:110833942-110834114	MCF-7	breast:	n/a	n/a
17	MAFF	chr4:110833834-110834336	K562	blood:	n/a	n/a
18	JUND	chr4:110833916-110834116	H1-hESC	embryonic stem cell:	n/a	chr4:110834022-110834029 chr4:110834019-110834031 chr4:110834021-110834029 chr4:110834020-110834030 chr4:110834021-110834029
19	RCOR1	chr4:110833860-110834737	K562	blood:	n/a	n/a
20	TBP	chr4:110833825-110834257	K562	blood:	n/a	n/a
21	MAFK	chr4:110833865-110834279	H1-hESC	embryonic stem cell:	n/a	chr4:110834019-110834029
22	BACH1	chr4:110833843-110834246	H1-hESC	embryonic stem cell:	n/a	chr4:110834018-110834032
23	MYC	chr4:110834042-110834580	K562	blood:	n/a	n/a
24	POLR2A	chr4:110833910-110834276	U87	brain:	n/a	n/a
25	POLR2A	chr4:110833667-110834430	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr4:110834036-110834229	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr4:110833981-110834212	K562	blood:	n/a	n/a
28	FOS	chr4:110833906-110834146	MCF10A-Er-Src	breast:	n/a	chr4:110834022-110834029 chr4:110834019-110834031 chr4:110834021-110834029 chr4:110834020-110834030 chr4:110834021-110834029
29	MAZ	chr4:110833749-110834205	K562	blood:	n/a	chr4:110834020-110834029
30	JUND	chr4:110833759-110834600	K562	blood:	n/a	chr4:110834022-110834029 chr4:110834019-110834031 chr4:110834021-110834029 chr4:110834020-110834030 chr4:110834021-110834029
31	TEAD4	chr4:110833720-110834665	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110621463..110624410-chr4:110832783..110835223,2	K562	blood:

Variant related genes	Relation type
EGF	TF binding region
ENSG00000138794	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10014805	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10015002	0.91[EUR][1000 genomes]
rs10017564	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10021157	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10025078	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10025276	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11568904	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12503113	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12506489	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12506702	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12510173	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12640600	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1860129	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2190907	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2237040	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2282784	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2298978	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2298979	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2298983	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2298989	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2298991	0.82[EUR][1000 genomes]
rs2298992	0.86[EUR][1000 genomes]
rs2298993	0.83[EUR][1000 genomes]
rs2347137	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2881559	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3796944	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3796948	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6533482	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6533483	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6855847	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs882405	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs929446	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9994491	0.91[EUR][1000 genomes]
rs9994509	0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110832800-110834200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:110832800-110836200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:110833400-110834200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:110833400-110834200	Enhancers	Fetal Heart	heart
5	chr4:110833400-110834600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:110833400-110835600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr4:110833600-110834200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr4:110833600-110834400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:110833600-110834800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:110833600-110834800	Flanking Active TSS	K562	blood
11	chr4:110833600-110835200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:110833600-110835400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr4:110833600-110836000	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr4:110833600-110838000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:110833800-110834200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr4:110833800-110834200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:110833800-110834200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:110833800-110834200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:110833800-110834200	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr4:110833800-110834200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr4:110833800-110834200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr4:110833800-110834200	Enhancers	Lung	lung
23	chr4:110833800-110834200	Active TSS	Stomach Smooth Muscle	stomach
24	chr4:110833800-110834200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr4:110833800-110834400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr4:110833800-110834400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:110833800-110834400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr4:110833800-110834400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:110833800-110834400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:110833800-110834400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:110833800-110834400	Enhancers	NHEK	skin
32	chr4:110833800-110834400	Flanking Active TSS	Osteobl	bone
33	chr4:110833800-110834600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:110833800-110834600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr4:110833800-110834600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr4:110833800-110834600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:110833800-110834600	Flanking Active TSS	Hela-S3	cervix
38	chr4:110833800-110834600	Flanking Active TSS	NH-A	brain
39	chr4:110833800-110835000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:110833800-110835000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr4:110833800-110835000	Enhancers	Fetal Lung	lung
42	chr4:110833800-110835800	Enhancers	H1 Cell Line	embryonic stem cell
43	chr4:110833800-110835800	Active TSS	Right Ventricle	heart
44	chr4:110833800-110836000	Active TSS	Left Ventricle	heart
45	chr4:110833800-110836000	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr4:110833800-110836400	Enhancers	Placenta Amnion	Placenta Amnion
47	chr4:110833800-110836400	Active TSS	Right Atrium	heart
48	chr4:110833800-110836400	Active TSS	HSMMtube	muscle
49	chr4:110833800-110837600	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr4:110834000-110834200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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