Variant report

Variant	rs73839425
Chromosome Location	chr4:107236614-107236615
allele	C/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	SPI1	chr4:107236553-107236775	HL-60	blood:	n/a	chr4:107236688-107236695
2	FOS	chr4:107236580-107237035	MCF10A-Er-Src	breast:	n/a	chr4:107236681-107236690
3	MXI1	chr4:107235967-107238818	SK-N-SH	brain:	n/a	n/a
4	RFX5	chr4:107236341-107238091	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr4:107236575-107239230	IMR90	lung:	n/a	n/a
6	HEY1	chr4:107236539-107237553	K562	blood:	n/a	n/a
7	ZNF384	chr4:107236139-107236962	K562	blood:	n/a	n/a
8	POLR2A	chr4:107236164-107239299	GM12878	blood:	n/a	n/a
9	JUND	chr4:107236271-107237928	K562	blood:	n/a	chr4:107236681-107236690
10	POLR2A	chr4:107236524-107238338	GM12892	blood:	n/a	n/a
11	POLR2A	chr4:107236591-107238068	K562	blood:	n/a	n/a
12	POLR2A	chr4:107236520-107238647	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:107236605-107238109	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr4:107236612-107238425	GM12892	blood:	n/a	n/a
15	MAZ	chr4:107236573-107237957	GM12878	blood:	n/a	n/a
16	POLR2A	chr4:107236078-107240087	K562	blood:	n/a	n/a
17	POLR2A	chr4:107236538-107237004	SK-N-SH	brain:	n/a	n/a
18	TBP	chr4:107236579-107237972	Hela-S3	cervix:	n/a	n/a
19	RCOR1	chr4:107236612-107237940	K562	blood:	n/a	n/a
20	POLR2A	chr4:107236526-107238694	GM12892	blood:	n/a	n/a
21	POLR2A	chr4:107236561-107238680	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr4:107236383-107238707	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr4:107236559-107237983	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr4:107236557-107238273	HL-60	blood:	n/a	n/a
25	MYC	chr4:107236600-107236986	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr4:107236087-107238920	MCF10A-Er-Src	breast:	n/a	n/a
27	SPI1	chr4:107236528-107236944	HL-60	blood:	n/a	chr4:107236688-107236695
28	BHLHE40	chr4:107236263-107238635	K562	blood:	n/a	chr4:107237160-107237176
29	TAF1	chr4:107236611-107238130	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr4:107236354-107238745	K562	blood:	n/a	n/a
31	POLR2A	chr4:107236273-107238558	GM19099	blood:	n/a	n/a
32	POLR2A	chr4:107236510-107238141	K562	blood:	n/a	n/a
33	POLR2A	chr4:107236150-107239192	HepG2	liver:	n/a	n/a
34	POLR2A	chr4:107236550-107238618	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr4:107236165-107239379	IMR90	lung:	n/a	n/a
36	BCLAF1	chr4:107236610-107238013	GM12878	blood:	n/a	n/a
37	UBTF	chr4:107236602-107236873	K562	blood:	n/a	n/a
38	POLR2A	chr4:107236489-107238398	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr4:107236557-107238586	K562	blood:	n/a	n/a
40	POLR2A	chr4:107236506-107238173	GM18526	blood:	n/a	n/a
41	POLR2A	chr4:107236595-107237577	GM12892	blood:	n/a	n/a
42	POLR2A	chr4:107236595-107238029	ECC-1	luminal epithelium:	n/a	n/a
43	PML	chr4:107236519-107238116	K562	blood:	n/a	n/a
44	PRDM1	chr4:107236153-107237031	Hela-S3	cervix:	n/a	chr4:107236698-107236713
45	POLR2A	chr4:107236566-107238918	HepG2	liver:	n/a	n/a
46	POLR2A	chr4:107236589-107237966	K562	blood:	n/a	n/a
47	POLR2A	chr4:107236489-107238100	Hela-S3	cervix:	n/a	n/a
48	REST	chr4:107236387-107238660	H1-neurons	neurons:	n/a	chr4:107237159-107237177 chr4:107237152-107237159 chr4:107237161-107237174
49	POLR2A	chr4:107236452-107238956	ProgFib	skin:	n/a	n/a
50	POLR2A	chr4:107236573-107238591	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:107226289..107231817-chr4:107234990..107238909,9	MCF-7	breast:
2	chr4:100869528..100871186-chr4:107235611..107237116,2	K562	blood:
3	chr4:107217698..107220197-chr4:107235297..107237150,2	MCF-7	breast:

Variant related genes	Relation type
AIMP1	TF binding region
TBCK	TF binding region
ENSG00000145348	Chromatin interaction
ENSG00000245322	Chromatin interaction

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs11947830	1.00[AMR][1000 genomes]
rs28829295	1.00[AMR][1000 genomes]
rs55643705	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs55764348	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55844204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56112627	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56116680	1.00[AMR][1000 genomes]
rs56313516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56338587	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56393563	1.00[AMR][1000 genomes]
rs56885542	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56894273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56907238	0.83[AMR][1000 genomes]
rs57683733	1.00[AMR][1000 genomes]
rs57820715	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57894506	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58172732	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58214030	1.00[AMR][1000 genomes]
rs58494189	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59024949	1.00[AMR][1000 genomes]
rs59474187	1.00[AMR][1000 genomes]
rs60111429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60283634	1.00[AMR][1000 genomes]
rs60393377	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60865730	1.00[AMR][1000 genomes]
rs61621018	0.83[AMR][1000 genomes]
rs6829433	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6839070	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72883857	1.00[AMR][1000 genomes]
rs72883861	1.00[AMR][1000 genomes]
rs72883863	1.00[AMR][1000 genomes]
rs72883864	1.00[AMR][1000 genomes]
rs72883867	1.00[AMR][1000 genomes]
rs72883869	1.00[AMR][1000 genomes]
rs72885601	0.83[AMR][1000 genomes]
rs72887204	1.00[AMR][1000 genomes]
rs72887217	1.00[AMR][1000 genomes]
rs72887224	1.00[AMR][1000 genomes]
rs72887233	0.83[AMR][1000 genomes]
rs72887241	1.00[AMR][1000 genomes]
rs72887249	1.00[AMR][1000 genomes]
rs72887251	1.00[AMR][1000 genomes]
rs72887254	1.00[AMR][1000 genomes]
rs72889018	0.83[AMR][1000 genomes]
rs72889019	0.83[AMR][1000 genomes]
rs72889045	1.00[AMR][1000 genomes]
rs73836974	1.00[AMR][1000 genomes]
rs73836978	1.00[AMR][1000 genomes]
rs73836981	1.00[AMR][1000 genomes]
rs73836983	1.00[AMR][1000 genomes]
rs73836993	1.00[AMR][1000 genomes]
rs73837110	1.00[AMR][1000 genomes]
rs73837112	1.00[AMR][1000 genomes]
rs73837130	1.00[AMR][1000 genomes]
rs73837155	0.83[AMR][1000 genomes]
rs73838113	1.00[AMR][1000 genomes]
rs73838114	1.00[AMR][1000 genomes]
rs73838130	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838132	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838134	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838136	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838147	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838154	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838155	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838160	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838161	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838165	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838166	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838169	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838172	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838174	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838175	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838181	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838183	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838184	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838189	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838190	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838191	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838192	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838194	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838195	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838197	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839406	1.00[AMR][1000 genomes]
rs73839408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839427	1.00[AMR][1000 genomes]
rs73839428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839442	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839446	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839447	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839448	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839451	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839454	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839458	1.00[AMR][1000 genomes]
rs73839459	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839461	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73839465	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7691746	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7693156	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7698444	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv830029	chr4:107203096-107353483	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
2	esv1819960	chr4:107216320-107246136	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:107215800-107236800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:107235200-107239000	Active TSS	GM12878-XiMat	blood
3	chr4:107235200-107239000	Active TSS	K562	blood
4	chr4:107235400-107238800	Active TSS	NHLF	lung
5	chr4:107235600-107238400	Active TSS	Hela-S3	cervix
6	chr4:107235600-107239400	Active TSS	A549	lung
7	chr4:107235800-107237000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:107235800-107238800	Active TSS	Fetal Intestine Large	intestine
9	chr4:107236000-107236800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr4:107236000-107236800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:107236000-107236800	Flanking Active TSS	Osteobl	bone
12	chr4:107236000-107237000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr4:107236000-107237000	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr4:107236000-107237200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:107236000-107238200	Active TSS	Fetal Brain Female	brain
16	chr4:107236000-107238200	Active TSS	HMEC	breast
17	chr4:107236000-107238600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr4:107236000-107238600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:107236000-107238600	Active TSS	HSMM	muscle
20	chr4:107236200-107236800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:107236200-107236800	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr4:107236200-107236800	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr4:107236200-107236800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr4:107236200-107236800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
25	chr4:107236200-107236800	Flanking Active TSS	Fetal Brain Male	brain
26	chr4:107236200-107236800	Flanking Active TSS	Rectal Smooth Muscle	rectum
27	chr4:107236200-107236800	Flanking Active TSS	HUVEC	blood vessel
28	chr4:107236200-107237000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr4:107236200-107237000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr4:107236200-107237000	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr4:107236200-107237000	Flanking Active TSS	Liver	Liver
32	chr4:107236200-107237000	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr4:107236200-107237000	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr4:107236200-107237000	Active TSS	Right Atrium	heart
35	chr4:107236200-107237000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr4:107236200-107238200	Active TSS	Brain Anterior Caudate	brain
37	chr4:107236200-107238400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr4:107236200-107238400	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr4:107236200-107238400	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr4:107236200-107238400	Active TSS	Right Ventricle	heart
41	chr4:107236200-107238400	Active TSS	NHEK	skin
42	chr4:107236200-107238600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr4:107236200-107238600	Active TSS	HUES48 Cell Line	embryonic stem cell
44	chr4:107236200-107238600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr4:107236200-107238600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:107236200-107238600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:107236200-107238800	Active TSS	H1 Cell Line	embryonic stem cell
48	chr4:107236200-107238800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:107236200-107239000	Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr4:107236200-107239000	Active TSS	HUES6 Cell Line	embryonic stem cell

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