Variant report

Variant	rs61748201
Chromosome Location	chr5:37721219-37721220
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	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	EP300	chr5:37720358-37721255	SK-N-SH_RA	brain:	n/a	n/a
6	GATA3	chr5:37720208-37721416	SK-N-SH	brain:	n/a	n/a
7	JUND	chr5:37720395-37721324	SK-N-SH	brain:	n/a	chr5:37720667-37720679
8	NFIC	chr5:37720346-37721390	SK-N-SH	brain:	n/a	n/a
9	RXRA	chr5:37720509-37721264	SK-N-SH	brain:	n/a	n/a
10	GATA2	chr5:37720459-37721318	SH-SY5Y	brain:	n/a	n/a
11	TEAD4	chr5:37720376-37721338	SK-N-SH	brain:	n/a	n/a
12	EP300	chr5:37720259-37721368	SK-N-SH	brain:	n/a	n/a
13	FOXM1	chr5:37720429-37721259	SK-N-SH	brain:	n/a	n/a
14	PBX3	chr5:37720279-37721412	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr5:37720336-37721327	SK-N-SH	brain:	n/a	n/a
16	EP300	chr5:37720198-37722140	SK-N-SH	brain:	n/a	n/a
17	REST	chr5:37721082-37721806	SK-N-SH	brain:	n/a	n/a
18	FOSL2	chr5:37720611-37721329	SK-N-SH	brain:	n/a	chr5:37720667-37720679
19	TEAD4	chr5:37720365-37721329	SK-N-SH	brain:	n/a	n/a
20	PBX3	chr5:37720469-37721262	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37711811..37713434-chr5:37718883..37721366,2	MCF-7	breast:

Variant related genes	Relation type
WDR70	TF binding region

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10038414	1.00[EUR][1000 genomes]
rs10039768	1.00[EUR][1000 genomes]
rs10042970	1.00[EUR][1000 genomes]
rs10043213	1.00[EUR][1000 genomes]
rs10050392	1.00[EUR][1000 genomes]
rs10050932	1.00[EUR][1000 genomes]
rs10051811	1.00[EUR][1000 genomes]
rs10053094	1.00[EUR][1000 genomes]
rs10055123	1.00[EUR][1000 genomes]
rs10055301	1.00[EUR][1000 genomes]
rs10055334	1.00[EUR][1000 genomes]
rs10055747	1.00[EUR][1000 genomes]
rs10058062	1.00[EUR][1000 genomes]
rs10059214	1.00[EUR][1000 genomes]
rs10060693	1.00[EUR][1000 genomes]
rs10063001	1.00[EUR][1000 genomes]
rs10067239	1.00[EUR][1000 genomes]
rs10067869	1.00[EUR][1000 genomes]
rs10071967	1.00[EUR][1000 genomes]
rs10074536	1.00[EUR][1000 genomes]
rs10075851	1.00[EUR][1000 genomes]
rs10076872	1.00[EUR][1000 genomes]
rs10078503	1.00[EUR][1000 genomes]
rs1104717	1.00[EUR][1000 genomes]
rs1104718	1.00[EUR][1000 genomes]
rs12332422	1.00[EUR][1000 genomes]
rs12332493	1.00[EUR][1000 genomes]
rs1400855	1.00[EUR][1000 genomes]
rs16903667	1.00[EUR][1000 genomes]
rs16903675	1.00[EUR][1000 genomes]
rs16903689	1.00[EUR][1000 genomes]
rs16903703	1.00[EUR][1000 genomes]
rs16903704	1.00[EUR][1000 genomes]
rs16903706	1.00[EUR][1000 genomes]
rs1829294	1.00[EUR][1000 genomes]
rs1973713	1.00[EUR][1000 genomes]
rs28876205	1.00[EUR][1000 genomes]
rs475517	1.00[EUR][1000 genomes]
rs481834	1.00[EUR][1000 genomes]
rs488315	1.00[EUR][1000 genomes]
rs489123	1.00[EUR][1000 genomes]
rs563999	1.00[EUR][1000 genomes]
rs587641	1.00[EUR][1000 genomes]
rs59176360	1.00[EUR][1000 genomes]
rs596461	1.00[EUR][1000 genomes]
rs626649	1.00[EUR][1000 genomes]
rs6451332	1.00[EUR][1000 genomes]
rs6451340	0.98[AFR][1000 genomes]
rs671077	1.00[EUR][1000 genomes]
rs6859972	1.00[EUR][1000 genomes]
rs6863124	1.00[EUR][1000 genomes]
rs6863547	1.00[EUR][1000 genomes]
rs6869762	0.81[AFR][1000 genomes]
rs6888597	1.00[EUR][1000 genomes]
rs6898225	1.00[EUR][1000 genomes]
rs6898271	1.00[EUR][1000 genomes]
rs7708301	1.00[EUR][1000 genomes]
rs7708708	1.00[EUR][1000 genomes]
rs7710547	1.00[EUR][1000 genomes]
rs7714066	1.00[EUR][1000 genomes]
rs7719190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7722722	0.95[AFR][1000 genomes]
rs7723389	1.00[EUR][1000 genomes]
rs7725297	1.00[EUR][1000 genomes]
rs7727291	1.00[EUR][1000 genomes]
rs7727603	1.00[EUR][1000 genomes]
rs7729195	1.00[EUR][1000 genomes]
rs7732315	1.00[EUR][1000 genomes]
rs7734593	1.00[EUR][1000 genomes]
rs7736605	1.00[EUR][1000 genomes]
rs7736862	1.00[EUR][1000 genomes]
rs7737210	1.00[EUR][1000 genomes]
rs7737986	1.00[EUR][1000 genomes]
rs9292658	1.00[EUR][1000 genomes]
rs9292659	1.00[EUR][1000 genomes]
rs9292660	1.00[EUR][1000 genomes]
rs9292661	1.00[EUR][1000 genomes]
rs9292663	1.00[EUR][1000 genomes]
rs951579	1.00[EUR][1000 genomes]
rs9764529	0.93[AFR][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:108 , 50 per page) page: 1 2 3

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	chr5:37688400-37721400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:37688400-37721400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr5:37688400-37723600	Weak transcription	Placenta	Placenta
6	chr5:37689600-37726000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr5:37695400-37722600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr5:37696800-37722800	Weak transcription	Psoas Muscle	Psoas
9	chr5:37697000-37721400	Weak transcription	Fetal Thymus	thymus
10	chr5:37697000-37743800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr5:37697400-37722200	Weak transcription	HMEC	breast
12	chr5:37702800-37723400	Weak transcription	Thymus	Thymus
13	chr5:37703600-37722800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr5:37703800-37721600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:37704400-37735400	Weak transcription	Brain Angular Gyrus	brain
16	chr5:37704600-37726800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:37705400-37724400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr5:37710200-37735400	Weak transcription	Brain Substantia Nigra	brain
19	chr5:37714400-37725600	Enhancers	NHDF-Ad	bronchial
20	chr5:37715000-37724600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:37716200-37722600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr5:37716400-37734800	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:37717600-37722600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:37717600-37737600	Weak transcription	Small Intestine	intestine
25	chr5:37717800-37724400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr5:37717800-37735200	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:37717800-37735200	Weak transcription	Fetal Brain Male	brain
28	chr5:37717800-37735400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:37717800-37735600	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:37717800-37756200	Weak transcription	Right Ventricle	heart
31	chr5:37718200-37721600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr5:37718200-37722400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr5:37718200-37722600	Weak transcription	K562	blood
34	chr5:37718200-37727000	Weak transcription	Fetal Brain Female	brain
35	chr5:37718200-37727000	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:37718200-37727400	Weak transcription	Brain Germinal Matrix	brain
37	chr5:37718400-37721800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr5:37718400-37721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:37718400-37722400	Weak transcription	Fetal Muscle Leg	muscle
40	chr5:37718400-37735400	Weak transcription	Brain Anterior Caudate	brain
41	chr5:37718400-37735400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr5:37718400-37743200	Weak transcription	Aorta	Aorta
43	chr5:37718400-37745400	Weak transcription	Pancreas	Pancrea
44	chr5:37718400-37755800	Weak transcription	Spleen	Spleen
45	chr5:37718600-37721400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:37718600-37722200	Weak transcription	Fetal Kidney	kidney
47	chr5:37718600-37723400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr5:37718600-37726800	Weak transcription	Liver	Liver
49	chr5:37718800-37722800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr5:37718800-37722800	Weak transcription	Hela-S3	cervix

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