Variant report

Variant	rs4715654
Chromosome Location	chr6:57189484-57189485
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:57054267..57055185-chr6:57188775..57189678,2	MCF-7	breast:
2	chr6:57132762..57133471-chr6:57189050..57190018,2	K562	blood:
3	chr6:57187827..57190385-chr6:57223942..57226286,2	MCF-7	breast:
4	chr6:56769552..56770203-chr6:57189093..57189825,2	MCF-7	breast:
5	chr6:57188094..57190184-chr6:57192296..57194436,2	MCF-7	breast:
6	chr6:57182878..57185696-chr6:57187760..57190457,2	MCF-7	breast:
7	chr6:57183026..57185889-chr6:57188123..57191219,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1013893	0.87[CHB][hapmap]
rs1013894	0.82[CHB][hapmap];0.80[ASN][1000 genomes]
rs1019210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.86[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1029872	0.95[CHB][hapmap]
rs10733187	1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1119375	0.82[CHB][hapmap]
rs12664535	0.82[CHB][hapmap]
rs1618210	0.95[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap]
rs1741916	1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.94[LWK][hapmap];0.96[MKK][hapmap];0.84[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1755833	0.91[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.81[MKK][hapmap];0.80[ASN][1000 genomes]
rs2013464	0.81[CHB][hapmap]
rs2013480	0.95[CHB][hapmap]
rs2098172	0.91[CHB][hapmap]
rs2191651	0.82[CHB][hapmap]
rs2215511	0.95[CHB][hapmap]
rs3757294	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs3800015	0.87[CHB][hapmap]
rs4288209	1.00[ASW][hapmap];0.82[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];0.97[LWK][hapmap];0.98[MKK][hapmap];0.92[TSI][hapmap]
rs4712144	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.91[JPT][hapmap];0.86[LWK][hapmap];0.86[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4712149	0.82[CEU][hapmap];0.86[CHB][hapmap]
rs4712154	0.82[CHB][hapmap]
rs4715655	0.91[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.83[MKK][hapmap];0.80[ASN][1000 genomes]
rs4715656	0.95[CHB][hapmap]
rs4715657	0.91[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap];0.80[ASN][1000 genomes]
rs6459191	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6459193	0.91[CHB][hapmap];0.84[CHD][hapmap];0.84[GIH][hapmap]
rs7738530	0.91[CHB][hapmap]
rs7771738	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9296865	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9357943	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs9357944	0.87[CHB][hapmap]
rs9396278	0.87[CHB][hapmap]
rs980327	0.87[CHB][hapmap]

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	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2758056	chr6:57184541-57562604	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv2759432	chr6:57184541-57562604	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 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	chr6:57182800-57191200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:57182800-57192600	Weak transcription	Aorta	Aorta
3	chr6:57182800-57194200	Weak transcription	Small Intestine	intestine
4	chr6:57183000-57191400	Weak transcription	Lung	lung
5	chr6:57183000-57192600	Weak transcription	Esophagus	oesophagus
6	chr6:57183000-57194200	Weak transcription	Pancreas	Pancrea
7	chr6:57183000-57194200	Weak transcription	Spleen	Spleen
8	chr6:57183000-57194400	Weak transcription	Brain Substantia Nigra	brain
9	chr6:57183000-57194600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:57183000-57199400	Weak transcription	HSMMtube	muscle
11	chr6:57183200-57190000	Weak transcription	Fetal Intestine Small	intestine
12	chr6:57183200-57190200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr6:57183200-57190200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr6:57183200-57191400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:57183200-57191600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr6:57183200-57191800	Weak transcription	Gastric	stomach
17	chr6:57183200-57192000	Weak transcription	Fetal Brain Male	brain
18	chr6:57183200-57192600	Weak transcription	Colonic Mucosa	Colon
19	chr6:57183200-57192800	Weak transcription	Brain Angular Gyrus	brain
20	chr6:57183200-57194400	Weak transcription	Psoas Muscle	Psoas
21	chr6:57183200-57199200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:57183400-57190800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr6:57183400-57190800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr6:57183400-57191400	Weak transcription	Fetal Lung	lung
25	chr6:57183600-57191800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:57183600-57192200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr6:57183800-57192600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr6:57183800-57192800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:57183800-57193400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr6:57183800-57194200	Strong transcription	Fetal Thymus	thymus
31	chr6:57184000-57192200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr6:57184000-57192200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:57184000-57193200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:57184000-57194600	Strong transcription	Primary B cells from cord blood	blood
35	chr6:57184000-57195800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:57184200-57192000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:57184200-57192000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr6:57184200-57194400	Weak transcription	Fetal Heart	heart
39	chr6:57184200-57201200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr6:57184400-57191200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr6:57184400-57193600	Strong transcription	Primary T cells from cord blood	blood
42	chr6:57184600-57194400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr6:57184600-57196000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr6:57184600-57196200	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:57184600-57199200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:57184800-57194400	Strong transcription	HepG2	liver
47	chr6:57184800-57194800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr6:57184800-57199600	Strong transcription	HSMM	muscle
49	chr6:57185000-57195000	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr6:57185200-57194400	Strong transcription	Primary T helper cells PMA-I stimulated	--

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