Variant report

Variant	rs2242234
Chromosome Location	chr4:755129-755130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:755036-758873	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr4:755025-760271	HepG2	liver:	n/a	n/a
3	POLR2A	chr4:754970-758919	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr4:753739-764687	K562	blood:	n/a	n/a
5	POLR2A	chr4:754980-755904	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:753734-759040	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr4:754975-755918	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr4:755053-755139	A549	lung:	n/a	n/a
9	POLR2A	chr4:754275-761413	MCF-7	breast:	n/a	n/a
10	POLR2A	chr4:754909-755190	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:754105-761557	K562	blood:	n/a	n/a
12	POLR2A	chr4:754591-758949	HepG2	liver:	n/a	n/a
13	POLR2A	chr4:754463-755193	SK-N-MC	brain:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:741902..744115-chr4:754225..756300,2	MCF-7	breast:
2	chr4:749591..753567-chr4:753955..757140,4	MCF-7	breast:
3	chr4:755074..756694-chr4:1019394..1021840,2	K562	blood:
4	chr4:666788..669425-chr4:753705..755956,2	K562	blood:
5	chr4:658116..660628-chr4:754612..756376,2	K562	blood:
6	chr4:745562..749408-chr4:752726..755779,3	MCF-7	breast:
7	chr4:754637..757120-chr4:925087..927511,3	MCF-7	breast:
8	chr4:593904..597020-chr4:753917..757326,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272588	TF binding region
ENSG00000272588	Chromatin interaction
ENSG00000178950	Chromatin interaction
ENSG00000215375	Chromatin interaction
ENSG00000250259	Chromatin interaction
ENSG00000169020	Chromatin interaction
ENSG00000127419	Chromatin interaction
ENSG00000133256	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1044147	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1044180	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10794536	1.00[YRI][hapmap]
rs17164985	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165026	0.83[MKK][hapmap];1.00[YRI][hapmap]
rs3816680	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55636227	0.85[AMR][1000 genomes]
rs55700741	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55715360	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55955900	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56199932	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6815857	1.00[YRI][hapmap]
rs73207751	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73207759	0.84[ASN][1000 genomes]
rs73222803	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73222807	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73222824	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73222839	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
6	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
8	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
9	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
10	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
12	nsv878253	chr4:708932-771587	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
13	nsv878254	chr4:708932-899143	Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv878255	chr4:708932-1052488	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
15	nsv878257	chr4:712222-852313	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
16	nsv878258	chr4:712222-1058358	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv878259	chr4:713920-852313	Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv878260	chr4:713920-1052488	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
19	nsv4195	chr4:727187-768059	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
20	nsv966467	chr4:744990-760620	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv10418	chr4:752002-755765	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	nsv818207	chr4:753944-821490	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:727000-767600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:728600-755800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr4:728600-763400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:729000-762600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:729600-760800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:742600-763600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr4:742800-756200	Weak transcription	Stomach Mucosa	stomach
8	chr4:742800-764000	Weak transcription	Small Intestine	intestine
9	chr4:744400-763400	Weak transcription	Right Atrium	heart
10	chr4:746000-773800	Weak transcription	Fetal Brain Male	brain
11	chr4:746200-758600	Weak transcription	Brain Anterior Caudate	brain
12	chr4:747000-756400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr4:748200-763400	Weak transcription	Brain Substantia Nigra	brain
14	chr4:749400-755800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:751600-755600	Weak transcription	Brain Angular Gyrus	brain
16	chr4:751600-758200	Weak transcription	HSMM	muscle
17	chr4:753600-758200	Strong transcription	Fetal Thymus	thymus
18	chr4:753600-759400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:753600-759400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:753600-769000	ZNF genes & repeats	Fetal Stomach	stomach
21	chr4:753600-773800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:753800-755400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:753800-755600	Strong transcription	A549	lung
24	chr4:753800-755800	ZNF genes & repeats	Brain Germinal Matrix	brain
25	chr4:753800-755800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr4:753800-756000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:753800-756000	Strong transcription	Fetal Intestine Large	intestine
28	chr4:753800-756000	Strong transcription	Fetal Intestine Small	intestine
29	chr4:753800-756200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr4:753800-756200	Strong transcription	Liver	Liver
31	chr4:753800-756400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:753800-757200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:753800-757400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:753800-757600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr4:753800-757800	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr4:753800-757800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:753800-757800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:753800-758200	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr4:753800-758600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:753800-758600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr4:753800-758600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr4:753800-759200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:753800-759200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:753800-759400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:753800-759600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
46	chr4:753800-759800	Strong transcription	GM12878-XiMat	blood
47	chr4:753800-761000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:753800-761000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr4:753800-761400	Strong transcription	Colonic Mucosa	Colon
50	chr4:753800-764200	ZNF genes & repeats	Aorta	Aorta

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