Variant report

Variant	rs4128198
Chromosome Location	chr8:9433499-9433500
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10092751	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10094989	0.91[CEU][hapmap]
rs10102030	0.80[YRI][hapmap]
rs10102170	0.90[CEU][hapmap]
rs10109026	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10111376	0.80[CEU][hapmap]
rs11249934	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs11785458	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12155819	0.91[CEU][hapmap]
rs12156017	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12542457	0.91[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs12542912	0.92[CEU][hapmap]
rs12545250	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12547642	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12676193	0.84[AMR][1000 genomes]
rs12677507	0.84[CEU][hapmap];0.89[CHB][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12682175	0.87[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13276086	0.81[CEU][hapmap]
rs1394	0.86[CEU][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1458942	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs33994795	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4075359	0.88[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes]
rs4129360	0.91[CEU][hapmap]
rs4422774	0.83[EUR][1000 genomes]
rs4840425	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4840426	0.82[CEU][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4841196	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs6601327	0.81[CHB][hapmap];0.91[JPT][hapmap]
rs6601338	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6601340	0.86[CEU][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6982148	0.91[CEU][hapmap]
rs6990418	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6994574	0.91[CEU][hapmap]
rs7004937	1.00[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.84[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7461939	0.91[CEU][hapmap]
rs7822700	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs7834823	0.80[YRI][hapmap]
rs7835002	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7846399	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9644704	0.86[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:9415000-9435400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:9415800-9434800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:9416000-9434600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:9416200-9434200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:9417000-9434600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr8:9417200-9434400	Weak transcription	Primary T cells from cord blood	blood
8	chr8:9417200-9450000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:9417600-9437600	Weak transcription	Dnd41	blood
10	chr8:9418000-9435000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr8:9418600-9434800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:9422200-9438400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:9422400-9434600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:9424800-9440000	Weak transcription	Fetal Lung	lung
15	chr8:9425800-9435000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:9427000-9435000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:9427400-9450000	Weak transcription	Thymus	Thymus
18	chr8:9428000-9433600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr8:9428000-9434600	Weak transcription	HepG2	liver
20	chr8:9428000-9435400	Weak transcription	Fetal Muscle Leg	muscle
21	chr8:9428200-9434800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:9428200-9435400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr8:9428200-9435400	Weak transcription	Gastric	stomach
24	chr8:9428200-9466200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:9428400-9435000	Weak transcription	Right Ventricle	heart
26	chr8:9428400-9435200	Weak transcription	Aorta	Aorta
27	chr8:9428400-9435200	Weak transcription	Ovary	ovary
28	chr8:9428400-9435400	Weak transcription	Left Ventricle	heart
29	chr8:9428400-9450000	Weak transcription	Psoas Muscle	Psoas
30	chr8:9428800-9435000	Weak transcription	Fetal Heart	heart
31	chr8:9429000-9437200	Weak transcription	Brain Angular Gyrus	brain
32	chr8:9429000-9450000	Weak transcription	Fetal Kidney	kidney
33	chr8:9429200-9437800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr8:9430200-9434600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:9430200-9442400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr8:9430200-9449800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr8:9430600-9440400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:9431000-9433600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr8:9431000-9434400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr8:9431000-9440000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr8:9431000-9447000	Weak transcription	Brain Substantia Nigra	brain
42	chr8:9431000-9448800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr8:9431000-9449400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr8:9431000-9450000	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:9431800-9434400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr8:9431800-9437400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr8:9432000-9435000	Weak transcription	NHDF-Ad	bronchial
48	chr8:9432000-9435400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr8:9432000-9444400	Weak transcription	NHEK	skin
50	chr8:9432000-9448200	Weak transcription	Fetal Brain Male	brain

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