Variant report

Variant	rs6601217
Chromosome Location	chr5:177568839-177568840
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	POLR2A	chr5:177563930-177577112	K562	blood:	n/a	n/a
2	POLR2A	chr5:177568347-177571828	K562	blood:	n/a	n/a
3	MAFK	chr5:177568652-177568901	K562	blood:	n/a	n/a
4	MAFK	chr5:177568599-177568897	HepG2	liver:	n/a	n/a
5	POLR2A	chr5:177568741-177568894	MCF10A-Er-Src	breast:	n/a	n/a
6	MAFK	chr5:177568579-177568904	HepG2	liver:	n/a	n/a
7	POLR2A	chr5:177568838-177569628	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177564815..177566910-chr5:177567928..177570630,2	K562	blood:
2	chr5:177568592..177570567-chr5:177631471..177633175,2	MCF-7	breast:

Variant related genes	Relation type
RMND5B	TF binding region
ENSG00000145916	Chromatin interaction
ENSG00000197451	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10035478	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs10040895	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10060446	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10074810	0.81[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12655707	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13155699	0.91[ASN][1000 genomes]
rs13163671	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13165989	0.94[ASN][1000 genomes]
rs13175750	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13180226	0.83[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13185017	0.84[ASN][1000 genomes]
rs13185763	0.92[ASN][1000 genomes]
rs13189047	0.85[CHB][hapmap];0.84[CHD][hapmap];0.84[JPT][hapmap];0.82[ASN][1000 genomes]
rs13436876	0.89[CEU][hapmap];0.85[CHB][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];0.81[MEX][hapmap];0.80[EUR][1000 genomes]
rs34093388	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34343747	0.92[ASN][1000 genomes]
rs34353050	0.94[ASN][1000 genomes]
rs35027513	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35433113	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs35598853	0.93[ASN][1000 genomes]
rs36090803	0.85[ASN][1000 genomes]
rs3812073	0.95[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs3812075	0.93[GIH][hapmap]
rs3812077	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3812079	0.85[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap]
rs3812080	0.84[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3924305	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4637566	0.82[CEU][hapmap];0.85[CHB][hapmap];0.84[JPT][hapmap];0.80[EUR][1000 genomes]
rs6873523	0.81[ASW][hapmap];0.88[CEU][hapmap];0.84[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.84[JPT][hapmap];0.87[LWK][hapmap];0.81[MEX][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6876480	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6886057	0.86[ASN][1000 genomes]
rs6893797	0.92[YRI][hapmap];0.83[AFR][1000 genomes]
rs7379278	0.94[GIH][hapmap];0.92[YRI][hapmap]
rs7380934	0.94[GIH][hapmap];0.80[YRI][hapmap]
rs7443359	0.87[ASN][1000 genomes]
rs7447860	0.81[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7448252	0.90[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs7701678	0.94[GIH][hapmap]
rs7716409	0.84[ASN][1000 genomes]
rs7716860	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7732415	0.94[GIH][hapmap]
rs7733574	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
3	nsv1021198	chr5:177386267-177611648	Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
5	nsv462567	chr5:177505021-177572927	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv471058	chr5:177505021-177572927	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv600392	chr5:177505021-177572927	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1019404	chr5:177507080-177859089	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	126 gene(s)	inside rSNPs	diseases
9	nsv883190	chr5:177532201-177620189	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv600394	chr5:177549491-177608195	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 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	chr5:177558800-177569600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr5:177558800-177576800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:177559000-177569000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:177559000-177569200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:177559000-177569200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:177559000-177569200	Weak transcription	Gastric	stomach
7	chr5:177559000-177569200	Weak transcription	HSMM	muscle
8	chr5:177559000-177569400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:177559000-177569600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr5:177559000-177569800	Weak transcription	HUVEC	blood vessel
11	chr5:177559000-177569800	Weak transcription	NHDF-Ad	bronchial
12	chr5:177559000-177570600	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr5:177559000-177572800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:177559000-177572800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:177559000-177574000	Weak transcription	Small Intestine	intestine
16	chr5:177559000-177580000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr5:177559000-177580000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr5:177559200-177569600	Weak transcription	HMEC	breast
19	chr5:177559200-177569800	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:177559200-177570400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:177559200-177573000	Weak transcription	Psoas Muscle	Psoas
22	chr5:177559200-177573200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr5:177559200-177579800	Weak transcription	Right Atrium	heart
24	chr5:177559400-177570400	Weak transcription	Fetal Heart	heart
25	chr5:177559600-177569000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:177559600-177569400	Weak transcription	Hela-S3	cervix
27	chr5:177559600-177569800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:177559800-177577600	Weak transcription	Fetal Brain Male	brain
29	chr5:177560200-177579400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:177560200-177579600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:177560200-177579800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:177560400-177578400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr5:177560400-177578400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:177560400-177578600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:177560600-177569200	Strong transcription	Fetal Stomach	stomach
36	chr5:177560600-177579400	Strong transcription	Fetal Intestine Small	intestine
37	chr5:177560800-177579400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr5:177560800-177579600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr5:177561000-177569400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr5:177561000-177570400	Strong transcription	Placenta	Placenta
41	chr5:177561000-177571600	Strong transcription	Liver	Liver
42	chr5:177561000-177572800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr5:177561000-177578000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr5:177561000-177578200	Strong transcription	Adipose Nuclei	Adipose
45	chr5:177561000-177578800	Strong transcription	Thymus	Thymus
46	chr5:177561000-177579200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr5:177561000-177579400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:177561000-177579800	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr5:177561200-177578800	Strong transcription	Primary T cells from cord blood	blood
50	chr5:177561200-177579400	Strong transcription	Fetal Thymus	thymus

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