Variant report

Variant	rs16904182
Chromosome Location	chr8:130982439-130982440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:130981588..130985969-chr8:131027661..131030801,4	K562	blood:
2	chr8:130981588..130985969-chr8:131024671..131030870,8	K562	blood:
3	chr8:130982299..130983095-chr8:131026665..131027754,4	MCF-7	breast:
4	chr8:130949993..130954520-chr8:130981777..130987768,8	K562	blood:

Variant related genes	Relation type
ENSG00000253720	Chromatin interaction
ENSG00000153310	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10088317	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10092658	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10111220	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10112738	1.00[ASN][1000 genomes]
rs10481174	1.00[ASN][1000 genomes]
rs16904183	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17194407	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194571	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17194770	1.00[CEU][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17279655	1.00[CEU][hapmap];0.87[GIH][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28411256	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28682439	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718397	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718400	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720304	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720325	0.80[EUR][1000 genomes]
rs7812685	1.00[ASN][1000 genomes]
rs7817091	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825122	1.00[ASN][1000 genomes]
rs7837729	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv465808	chr8:130963259-131118658	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
7	nsv612232	chr8:130963259-131118658	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv398482	chr8:130981278-130982674	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130959200-130983400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:130965800-130983800	Weak transcription	HSMMtube	muscle
3	chr8:130966000-130984400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:130966000-130984800	Weak transcription	Esophagus	oesophagus
5	chr8:130970400-130984800	Weak transcription	Fetal Heart	heart
6	chr8:130971600-130984800	Weak transcription	Colonic Mucosa	Colon
7	chr8:130971600-130985400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr8:130972600-130983000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:130974600-130983000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr8:130975200-130983400	Weak transcription	HSMM	muscle
11	chr8:130975200-130985600	Weak transcription	Liver	Liver
12	chr8:130975400-130982600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:130975600-130983000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr8:130975600-130983800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr8:130975800-130983800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:130975800-130984800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:130975800-130984800	Weak transcription	Lung	lung
18	chr8:130975800-130985000	Weak transcription	Gastric	stomach
19	chr8:130975800-130994000	Weak transcription	Pancreas	Pancrea
20	chr8:130976000-130983800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr8:130976000-130983800	Weak transcription	Brain Anterior Caudate	brain
22	chr8:130976000-130983800	Weak transcription	Fetal Kidney	kidney
23	chr8:130976000-130983800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:130976000-130988000	Weak transcription	Psoas Muscle	Psoas
25	chr8:130976400-130983000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:130976800-130983400	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:130976800-130983800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:130977400-130983800	Weak transcription	Spleen	Spleen
29	chr8:130977400-130984000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:130977600-130983000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:130977600-130983800	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr8:130977600-130983800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:130978000-130984400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:130978400-130983000	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr8:130978600-130983800	Weak transcription	Thymus	Thymus
36	chr8:130978600-130983800	Weak transcription	NH-A	brain
37	chr8:130978800-130983000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr8:130979400-130982600	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr8:130979400-130982800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:130979600-130983200	Weak transcription	HUVEC	blood vessel
41	chr8:130979600-130983800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr8:130980000-130982600	Strong transcription	Primary T killer memory cells from peripheral blood	blood
43	chr8:130980200-130983000	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr8:130980200-130983400	Strong transcription	Fetal Thymus	thymus
45	chr8:130980400-130983800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:130980400-130984000	Weak transcription	Brain Germinal Matrix	brain
47	chr8:130980600-130983000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr8:130980600-130983600	Weak transcription	Brain Substantia Nigra	brain
49	chr8:130980600-130983800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:130980600-130983800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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