Variant report

Variant	rs2617265
Chromosome Location	chr5:177953662-177953663
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11249547	1.00[JPT][hapmap]
rs2546644	1.00[JPT][hapmap];0.85[YRI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2546646	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2647695	0.82[ASN][1000 genomes]
rs2647696	0.85[ASN][1000 genomes]
rs2672816	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2672818	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs2672825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2672826	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2672827	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2672830	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4976731	1.00[JPT][hapmap]
rs4976783	1.00[JPT][hapmap]
rs632384	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs686282	1.00[JPT][hapmap]
rs952086	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv427739	chr5:177766033-177966666	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv883210	chr5:177771925-177980792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats 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	8 gene(s)	inside rSNPs	diseases
5	nsv462570	chr5:177860454-178010145	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv600423	chr5:177860454-178010145	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv883214	chr5:177876309-178047217	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv462571	chr5:177898650-177961860	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv600424	chr5:177898650-177961860	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv471059	chr5:177919951-177965696	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv3437734	chr5:177950246-177954644	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
12	esv3445094	chr5:177950946-177953744	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
13	esv3378133	chr5:177951246-177953744	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177950400-177953800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:177952800-177954000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr5:177952800-177954400	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr5:177952800-177955200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr5:177952800-177956400	Enhancers	Left Ventricle	heart
6	chr5:177953000-177953800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:177953000-177954200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr5:177953000-177954200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr5:177953000-177954400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:177953000-177954800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr5:177953000-177954800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:177953000-177954800	Enhancers	Right Atrium	heart
13	chr5:177953000-177955200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:177953000-177956000	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr5:177953000-177956800	Enhancers	Right Ventricle	heart
16	chr5:177953200-177954200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr5:177953200-177954400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:177953200-177954400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr5:177953200-177954400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr5:177953200-177954400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:177953200-177954600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr5:177953200-177954600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:177953200-177954600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:177953200-177954600	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr5:177953200-177955000	Enhancers	Fetal Heart	heart
26	chr5:177953200-177955400	Enhancers	Fetal Stomach	stomach
27	chr5:177953200-177955800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:177953400-177953800	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr5:177953400-177953800	Weak transcription	Psoas Muscle	Psoas
30	chr5:177953400-177954200	Enhancers	NHDF-Ad	bronchial
31	chr5:177953400-177954400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:177953400-177954600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr5:177953600-177954600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr5:177953600-177955000	Enhancers	Primary monocytes fromperipheralblood	blood

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