Variant report

Variant	rs2317415
Chromosome Location	chr16:81594574-81594575
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81592452..81594789-chr16:81596434..81599247,2	K562	blood:
2	chr16:81587032..81590904-chr16:81592569..81595083,4	K562	blood:
3	chr16:81587793..81589565-chr16:81593147..81594914,2	K562	blood:
4	chr16:81585781..81588255-chr16:81593534..81595879,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11639751	0.81[EUR][1000 genomes]
rs12918645	0.82[CHB][hapmap]
rs12920332	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12925699	0.91[CEU][hapmap];0.91[CHB][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12929809	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1991042	1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2911278	0.83[CEU][hapmap];0.83[JPT][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2966091	1.00[YRI][hapmap]
rs2966117	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2966118	0.91[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2966120	0.83[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2966121	0.91[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4503787	1.00[YRI][hapmap]
rs7196195	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	esv2754804	chr16:81579729-81606569	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv1898	chr16:81581637-81626505	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv573361	chr16:81591496-81610722	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv524589	chr16:81592934-81609298	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv573362	chr16:81592934-81609298	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81573600-81594800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:81580200-81597600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr16:81581600-81608400	Weak transcription	Primary B cells from cord blood	blood
4	chr16:81585200-81602000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr16:81585600-81628600	Weak transcription	GM12878-XiMat	blood
6	chr16:81586000-81601400	Weak transcription	Fetal Thymus	thymus
7	chr16:81587000-81596600	Weak transcription	Brain Angular Gyrus	brain
8	chr16:81587000-81603800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:81587400-81597200	Weak transcription	Fetal Brain Female	brain
10	chr16:81587600-81594600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:81588000-81601600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr16:81588200-81596600	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:81588200-81600600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr16:81588200-81640800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr16:81589200-81598800	Weak transcription	Thymus	Thymus
16	chr16:81589200-81601800	Weak transcription	Left Ventricle	heart
17	chr16:81589400-81598800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:81589800-81595800	Weak transcription	Fetal Stomach	stomach
19	chr16:81590000-81597600	Genic enhancers	HepG2	liver
20	chr16:81590600-81595600	Enhancers	Fetal Intestine Large	intestine
21	chr16:81590600-81602000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr16:81592000-81594800	Weak transcription	Spleen	Spleen
23	chr16:81592200-81595600	Enhancers	Stomach Mucosa	stomach
24	chr16:81592200-81599000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr16:81592200-81599400	Weak transcription	Primary T cells from cord blood	blood
26	chr16:81592400-81595000	Enhancers	Fetal Intestine Small	intestine
27	chr16:81592400-81595600	Weak transcription	Right Atrium	heart
28	chr16:81592400-81595600	Weak transcription	Right Ventricle	heart
29	chr16:81592400-81596800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr16:81592400-81601800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr16:81592600-81594800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr16:81592600-81595800	Weak transcription	Esophagus	oesophagus
33	chr16:81592600-81597000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:81592600-81597400	Weak transcription	Fetal Brain Male	brain
35	chr16:81592600-81598200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr16:81592800-81595600	Weak transcription	Ovary	ovary
37	chr16:81592800-81595800	Weak transcription	Fetal Muscle Trunk	muscle
38	chr16:81592800-81597000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr16:81593000-81596000	Weak transcription	Fetal Muscle Leg	muscle
40	chr16:81593000-81597200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr16:81593000-81597200	Weak transcription	Brain Hippocampus Middle	brain
42	chr16:81593000-81600000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr16:81593000-81601200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr16:81593200-81595600	Weak transcription	Brain Substantia Nigra	brain
45	chr16:81593200-81596000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr16:81593200-81597200	Weak transcription	Brain Anterior Caudate	brain
47	chr16:81593200-81597200	Weak transcription	Brain Germinal Matrix	brain
48	chr16:81593200-81597200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr16:81593200-81597400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr16:81593200-81598800	Weak transcription	Primary monocytes fromperipheralblood	blood

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