Variant report

Variant	rs16930250
Chromosome Location	chr8:64111551-64111552
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:64079451..64084180-chr8:64108494..64113879,10	K562	blood:
2	chr8:64099330..64103376-chr8:64108595..64113469,4	K562	blood:

Variant related genes	Relation type
ENSG00000270673	Chromatin interaction
ENSG00000185728	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10088859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10092975	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10098087	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10098776	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10104382	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10108512	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap]
rs10108613	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs10110931	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10112454	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1836635	0.82[YRI][hapmap]
rs1897987	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28708489	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4074214	0.83[ASN][1000 genomes]
rs56175034	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58009465	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6991542	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6994169	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7011915	0.86[ASN][1000 genomes]
rs73684829	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73686712	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73686715	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs892850	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9657033	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9792339	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831342	chr8:64084331-64294941	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv890967	chr8:64107847-64454446	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking 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	13 gene(s)	inside rSNPs	diseases
3	esv3362978	chr8:64110597-64111575	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64100000-64118800	Weak transcription	Esophagus	oesophagus
2	chr8:64100400-64112600	Weak transcription	Stomach Mucosa	stomach
3	chr8:64100600-64113200	Weak transcription	Hela-S3	cervix
4	chr8:64100600-64122200	Weak transcription	Fetal Kidney	kidney
5	chr8:64100600-64127000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr8:64100800-64113000	Weak transcription	HSMMtube	muscle
7	chr8:64101200-64117200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:64101600-64128000	Weak transcription	Colonic Mucosa	Colon
9	chr8:64101600-64136000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr8:64102200-64112400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:64103400-64111800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr8:64103400-64115800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr8:64103400-64119800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:64103400-64127400	Weak transcription	Thymus	Thymus
15	chr8:64103600-64111800	Weak transcription	HepG2	liver
16	chr8:64103600-64112600	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:64103600-64115000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr8:64103600-64119800	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr8:64103600-64120600	Weak transcription	Dnd41	blood
20	chr8:64103600-64121400	Weak transcription	Fetal Thymus	thymus
21	chr8:64103600-64122200	Weak transcription	Placenta	Placenta
22	chr8:64103600-64129800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr8:64104000-64111800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:64104200-64111800	Weak transcription	Fetal Intestine Large	intestine
25	chr8:64104400-64124800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr8:64105000-64112400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr8:64105200-64112600	Weak transcription	A549	lung
28	chr8:64105200-64112800	Weak transcription	Primary hematopoietic stem cells	blood
29	chr8:64105200-64114000	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:64105200-64122400	Weak transcription	NHDF-Ad	bronchial
31	chr8:64105400-64111800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr8:64105400-64111800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr8:64105400-64112600	Weak transcription	NH-A	brain
34	chr8:64105400-64113400	Weak transcription	HSMM	muscle
35	chr8:64105400-64114400	Weak transcription	Fetal Lung	lung
36	chr8:64105400-64122200	Weak transcription	K562	blood
37	chr8:64105600-64116400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:64105600-64116400	Weak transcription	Brain Substantia Nigra	brain
39	chr8:64105800-64111800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr8:64105800-64111800	Weak transcription	Small Intestine	intestine
41	chr8:64105800-64112600	Weak transcription	Aorta	Aorta
42	chr8:64105800-64114400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:64105800-64119000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr8:64105800-64122200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:64106200-64115200	Weak transcription	Fetal Stomach	stomach
46	chr8:64107000-64127200	Weak transcription	Fetal Muscle Leg	muscle
47	chr8:64107000-64132000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr8:64107400-64111800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:64107400-64117200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:64107600-64111800	Weak transcription	Colon Smooth Muscle	Colon

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