Variant report

Variant	rs4582305
Chromosome Location	chr5:37720590-37720591
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	JUND	chr5:37720386-37721228	SK-N-SH	brain:	n/a	chr5:37720667-37720679
2	GATA3	chr5:37720165-37722247	SK-N-SH	brain:	n/a	n/a
3	TCF12	chr5:37720211-37722217	SK-N-SH	brain:	n/a	chr5:37720416-37720425
4	TCF12	chr5:37720176-37721426	SK-N-SH	brain:	n/a	chr5:37720416-37720425
5	POLR2A	chr5:37720430-37721091	SK-N-SH	brain:	n/a	n/a
6	EP300	chr5:37720358-37721255	SK-N-SH_RA	brain:	n/a	n/a
7	EP300	chr5:37720379-37721114	SK-N-SH_RA	brain:	n/a	n/a
8	YY1	chr5:37720552-37720984	SK-N-SH_RA	brain:	n/a	n/a
9	GATA3	chr5:37720208-37721416	SK-N-SH	brain:	n/a	n/a
10	JUND	chr5:37720395-37721324	SK-N-SH	brain:	n/a	chr5:37720667-37720679
11	NFIC	chr5:37720346-37721390	SK-N-SH	brain:	n/a	n/a
12	RXRA	chr5:37720509-37721264	SK-N-SH	brain:	n/a	n/a
13	GATA2	chr5:37720459-37721318	SH-SY5Y	brain:	n/a	n/a
14	TEAD4	chr5:37720376-37721338	SK-N-SH	brain:	n/a	n/a
15	EP300	chr5:37720259-37721368	SK-N-SH	brain:	n/a	n/a
16	FOXM1	chr5:37720429-37721259	SK-N-SH	brain:	n/a	n/a
17	PBX3	chr5:37720279-37721412	SK-N-SH	brain:	n/a	n/a
18	RAD21	chr5:37720365-37720880	SK-N-SH_RA	brain:	n/a	n/a
19	GATA3	chr5:37720374-37721214	SH-SY5Y	brain:	n/a	n/a
20	POLR2A	chr5:37720336-37721327	SK-N-SH	brain:	n/a	n/a
21	EP300	chr5:37720198-37722140	SK-N-SH	brain:	n/a	n/a
22	TEAD4	chr5:37720365-37721329	SK-N-SH	brain:	n/a	n/a
23	PBX3	chr5:37720469-37721262	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:37713205..37715908-chr5:37718081..37720863,2	K562	blood:
2	chr5:37713779..37717092-chr5:37718712..37720863,3	K562	blood:
3	chr5:37711811..37713434-chr5:37718883..37721366,2	MCF-7	breast:
4	chr5:37700803..37702469-chr5:37717736..37720672,2	MCF-7	breast:

Variant related genes	Relation type
WDR70	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10805627	0.82[ASN][1000 genomes]
rs10941345	0.82[CHB][hapmap]
rs10941347	0.82[CHB][hapmap]
rs10941351	0.82[CHB][hapmap]
rs10941358	0.81[ASN][1000 genomes]
rs10941359	1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs11739400	0.87[ASN][1000 genomes]
rs11740897	0.84[ASN][1000 genomes]
rs11742904	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11745953	1.00[CEU][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11745980	0.87[ASN][1000 genomes]
rs11747548	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11747900	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs11750837	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11750840	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11950295	0.82[CHB][hapmap]
rs12152831	0.82[CHB][hapmap]
rs12188864	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12189078	1.00[CEU][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12332088	0.86[ASN][1000 genomes]
rs12516955	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12520944	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12521063	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12654893	0.82[CHB][hapmap]
rs12655908	0.82[CHB][hapmap];0.85[YRI][hapmap]
rs1356433	1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs1400851	0.82[CHB][hapmap]
rs1400854	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs1517786	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs1589119	0.82[ASN][1000 genomes]
rs1996427	0.85[ASN][1000 genomes]
rs2088077	0.82[CHB][hapmap]
rs2101786	0.82[CHB][hapmap]
rs2176479	0.82[ASN][1000 genomes]
rs2366673	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4242251	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4257799	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4343860	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4371784	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4451075	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4482927	0.90[ASN][1000 genomes]
rs4516881	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4516882	0.90[ASN][1000 genomes]
rs4594879	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4608942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4618454	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4869530	0.82[CHB][hapmap];0.85[YRI][hapmap]
rs4869535	0.82[CHB][hapmap]
rs4869538	0.82[CHB][hapmap]
rs4869541	0.87[ASN][1000 genomes]
rs4869543	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55708822	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55732996	0.83[ASN][1000 genomes]
rs55742744	0.83[ASN][1000 genomes]
rs55849485	0.83[ASN][1000 genomes]
rs56007806	0.85[ASN][1000 genomes]
rs56051431	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56051756	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56100322	0.83[ASN][1000 genomes]
rs56412589	0.83[ASN][1000 genomes]
rs56832651	0.85[ASN][1000 genomes]
rs59378089	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59409868	0.85[ASN][1000 genomes]
rs59829323	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60589722	0.81[ASN][1000 genomes]
rs61492379	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62358883	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62360907	0.83[ASN][1000 genomes]
rs62360910	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6451329	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs6451330	0.81[ASN][1000 genomes]
rs6451331	1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs6451333	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs6451337	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6451339	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6863936	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6868428	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs6874891	0.82[CHB][hapmap]
rs6884551	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6884569	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs6885057	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs6885329	0.83[ASN][1000 genomes]
rs6887215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6887613	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs72743184	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7702644	0.82[ASN][1000 genomes]
rs7703775	0.82[ASN][1000 genomes]
rs7725465	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv432744	chr5:37374124-37743077	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1030250	chr5:37478163-37734859	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37685200-37743200	Weak transcription	Gastric	stomach
2	chr5:37685600-37727000	Weak transcription	Lung	lung
3	chr5:37687200-37720600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:37688400-37721400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:37688400-37721400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr5:37688400-37723600	Weak transcription	Placenta	Placenta
7	chr5:37689600-37726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:37692200-37721200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:37695400-37722600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr5:37695600-37721200	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr5:37696800-37722800	Weak transcription	Psoas Muscle	Psoas
12	chr5:37697000-37721400	Weak transcription	Fetal Thymus	thymus
13	chr5:37697000-37743800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr5:37697400-37722200	Weak transcription	HMEC	breast
15	chr5:37698800-37721000	Weak transcription	Dnd41	blood
16	chr5:37699800-37720600	Weak transcription	Adipose Nuclei	Adipose
17	chr5:37701400-37721200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr5:37702200-37721200	Weak transcription	GM12878-XiMat	blood
19	chr5:37702800-37723400	Weak transcription	Thymus	Thymus
20	chr5:37703600-37722800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr5:37703800-37721600	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr5:37704400-37735400	Weak transcription	Brain Angular Gyrus	brain
23	chr5:37704600-37726800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr5:37705400-37724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr5:37706200-37721200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr5:37710200-37735400	Weak transcription	Brain Substantia Nigra	brain
27	chr5:37714400-37725600	Enhancers	NHDF-Ad	bronchial
28	chr5:37715000-37724600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:37716200-37722600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr5:37716400-37734800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:37717600-37721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr5:37717600-37722600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:37717600-37737600	Weak transcription	Small Intestine	intestine
34	chr5:37717800-37720800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:37717800-37721000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr5:37717800-37724400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr5:37717800-37735200	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:37717800-37735200	Weak transcription	Fetal Brain Male	brain
39	chr5:37717800-37735400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr5:37717800-37735600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr5:37717800-37756200	Weak transcription	Right Ventricle	heart
42	chr5:37718000-37721000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:37718200-37721200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr5:37718200-37721200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr5:37718200-37721600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr5:37718200-37722400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr5:37718200-37722600	Weak transcription	K562	blood
48	chr5:37718200-37727000	Weak transcription	Fetal Brain Female	brain
49	chr5:37718200-37727000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr5:37718200-37727400	Weak transcription	Brain Germinal Matrix	brain

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