Variant report

Variant	rs9889676
Chromosome Location	chr17:60175879-60175880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60175247..60178063-chr17:60178504..60180978,2	MCF-7	breast:
2	chr17:60169141..60172371-chr17:60175299..60177766,3	MCF-7	breast:
3	chr17:60080687..60083533-chr17:60175845..60178775,2	MCF-7	breast:
4	chr17:60142328..60143978-chr17:60175405..60177008,2	K562	blood:
5	chr17:60173989..60176014-chr17:60177533..60180663,4	K562	blood:
6	chr17:60158973..60160546-chr17:60174535..60176288,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000242398	Chromatin interaction
ENSG00000108510	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10512493	0.83[JPT][hapmap]
rs11079461	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11079464	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11649711	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11869921	0.83[JPT][hapmap]
rs11870331	0.87[EUR][1000 genomes]
rs12450995	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs4456566	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4493126	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968410	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs4968469	1.00[CEU][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes]
rs4968473	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968477	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58046762	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6504077	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs6504079	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs67274807	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7207930	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs72845411	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72845416	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72845417	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72845418	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8072101	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs8081599	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8081812	0.82[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9303455	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9889324	1.00[CEU][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs9902812	0.90[CEU][hapmap]
rs9908352	1.00[CEU][hapmap];0.94[JPT][hapmap]
rs9912042	0.83[JPT][hapmap]
rs9913443	0.82[CEU][hapmap];0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv833507	chr17:60174659-60369541	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60171800-60176200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr17:60172000-60176400	Weak transcription	Pancreas	Pancrea
3	chr17:60174000-60176400	Weak transcription	HepG2	liver
4	chr17:60174000-60177800	Weak transcription	Liver	Liver
5	chr17:60174000-60182200	Weak transcription	Aorta	Aorta
6	chr17:60175000-60177200	Enhancers	Primary B cells from cord blood	blood
7	chr17:60175000-60177400	Enhancers	Primary B cells from peripheral blood	blood
8	chr17:60175200-60179600	Enhancers	Fetal Intestine Small	intestine
9	chr17:60175400-60177000	Enhancers	Duodenum Mucosa	Duodenum
10	chr17:60175600-60176000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:60175600-60176600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr17:60175600-60176800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr17:60175600-60176800	Flanking Active TSS	GM12878-XiMat	blood
14	chr17:60175600-60177400	Enhancers	Small Intestine	intestine
15	chr17:60175800-60176200	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr17:60175800-60176400	Enhancers	Fetal Intestine Large	intestine
17	chr17:60175800-60176600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr17:60175800-60176600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr17:60175800-60176600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr17:60175800-60176800	Enhancers	K562	blood

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