Variant report

Variant	rs72874745
Chromosome Location	chr4:95375539-95375540
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	POLR2A	chr4:95372105-95377374	MCF10A-Er-Src	breast:	n/a	n/a
2	JUND	chr4:95375536-95375920	K562	blood:	n/a	n/a
3	MYC	chr4:95375505-95375709	MCF10A-Er-Src	breast:	n/a	n/a
4	E2F4	chr4:95375450-95375856	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr4:95372198-95377263	MCF10A-Er-Src	breast:	n/a	n/a
6	ZNF384	chr4:95375124-95375631	K562	blood:	n/a	n/a
7	BHLHE40	chr4:95375525-95375711	GM12878	blood:	n/a	n/a
8	CCNT2	chr4:95375539-95375754	K562	blood:	n/a	n/a
9	ARID3A	chr4:95374446-95375913	K562	blood:	n/a	n/a
10	FOS	chr4:95375504-95375902	MCF10A-Er-Src	breast:	n/a	n/a
11	FOS	chr4:95375513-95375801	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr4:95375493-95375818	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:95373418..95376357-chr4:95500477..95502998,3	K562	blood:
2	chr4:95373570..95375959-chr4:95453474..95457865,4	K562	blood:
3	chr4:95373929..95376091-chr4:95450759..95452941,2	K562	blood:

Variant related genes	Relation type
ENSG00000203436	TF binding region
PDLIM5	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11097429	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11097430	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11932136	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11932224	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11933735	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935012	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11935084	1.00[AMR][1000 genomes]
rs11935947	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938329	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11938449	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11939756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940613	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941259	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11941353	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11942920	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11946663	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56827347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58528979	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6845473	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874705	1.00[EUR][1000 genomes]
rs72874730	1.00[EUR][1000 genomes]
rs72874733	1.00[EUR][1000 genomes]
rs72874739	1.00[EUR][1000 genomes]
rs72874752	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874760	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874763	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874764	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874769	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874781	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874785	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874786	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874791	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874800	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72874802	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876204	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876207	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876211	1.00[EUR][1000 genomes]
rs72876216	1.00[EUR][1000 genomes]
rs72876217	1.00[EUR][1000 genomes]
rs72876219	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876229	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72876241	1.00[EUR][1000 genomes]
rs72890408	1.00[EUR][1000 genomes]
rs72890416	1.00[EUR][1000 genomes]
rs7673478	1.00[EUR][1000 genomes]

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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95372000-95375600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr4:95372000-95375600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:95372000-95376400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:95372000-95376600	Active TSS	Stomach Smooth Muscle	stomach
5	chr4:95372000-95376600	Active TSS	HSMMtube	muscle
6	chr4:95372000-95376800	Active TSS	A549	lung
7	chr4:95372200-95376000	Active TSS	Colonic Mucosa	Colon
8	chr4:95372200-95376200	Active TSS	Psoas Muscle	Psoas
9	chr4:95372200-95376600	Active TSS	NHLF	lung
10	chr4:95372200-95376800	Active TSS	Ovary	ovary
11	chr4:95372200-95378200	Active TSS	Left Ventricle	heart
12	chr4:95372200-95378200	Active TSS	Right Atrium	heart
13	chr4:95372200-95378200	Active TSS	Right Ventricle	heart
14	chr4:95372400-95375800	Active TSS	Fetal Muscle Trunk	muscle
15	chr4:95372400-95375800	Active TSS	Placenta	Placenta
16	chr4:95372400-95376400	Active TSS	Fetal Muscle Leg	muscle
17	chr4:95372400-95376600	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr4:95372400-95377000	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr4:95372400-95377200	Active TSS	Aorta	Aorta
20	chr4:95372600-95375600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr4:95372600-95375600	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr4:95372600-95375600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr4:95372600-95375600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
24	chr4:95372600-95375600	Active TSS	Fetal Intestine Small	intestine
25	chr4:95372600-95375800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:95372600-95375800	Active TSS	Colon Smooth Muscle	Colon
27	chr4:95372600-95376200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr4:95372600-95376400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:95372600-95376600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:95372600-95376800	Active TSS	Duodenum Mucosa	Duodenum
31	chr4:95372600-95377000	Active TSS	K562	blood
32	chr4:95372800-95375600	Active TSS	Brain Anterior Caudate	brain
33	chr4:95372800-95375600	Active TSS	Fetal Intestine Large	intestine
34	chr4:95372800-95375600	Active TSS	Hela-S3	cervix
35	chr4:95372800-95375600	Active TSS	HUVEC	blood vessel
36	chr4:95372800-95375600	Active TSS	NH-A	brain
37	chr4:95372800-95376400	Active TSS	Rectal Mucosa Donor 29	rectum
38	chr4:95372800-95376600	Active TSS	HMEC	breast
39	chr4:95373400-95376200	ZNF genes & repeats	Fetal Heart	heart
40	chr4:95373800-95375600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:95373800-95376400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:95374200-95375600	Active TSS	HepG2	liver
43	chr4:95374200-95375800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:95374200-95376000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:95374200-95376600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:95374200-95377200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:95374200-95378800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr4:95374200-95387000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:95374200-95388600	Weak transcription	Gastric	stomach
50	chr4:95374200-95389200	Weak transcription	Lung	lung

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