Variant report

Variant	rs4240654
Chromosome Location	chr8:10403884-10403885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:10402409..10405026-chr8:10406767..10409505,2	K562	blood:
2	chr8:10403125..10404765-chr8:10411334..10413586,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11250028	0.90[ASN][1000 genomes]
rs11250029	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11777282	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11782090	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12541597	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12542271	0.81[ASN][1000 genomes]
rs12549461	1.00[CEU][hapmap];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12549899	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12674734	0.91[ASN][1000 genomes]
rs12676504	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13266722	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13266727	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28373124	0.87[ASN][1000 genomes]
rs34356138	0.95[EUR][1000 genomes]
rs34770482	0.91[ASN][1000 genomes]
rs34999153	0.91[ASN][1000 genomes]
rs35234702	0.80[EUR][1000 genomes]
rs35276159	0.91[ASN][1000 genomes]
rs35427890	0.90[ASN][1000 genomes]
rs35810206	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35847318	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35858883	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4307300	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4398871	0.91[ASN][1000 genomes]
rs4404876	0.90[ASN][1000 genomes]
rs4623376	0.80[EUR][1000 genomes]
rs4840489	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs4840491	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4841370	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4841371	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs4841380	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55700180	0.87[ASN][1000 genomes]
rs55894133	0.87[ASN][1000 genomes]
rs6601492	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6986876	0.91[ASN][1000 genomes]
rs6987477	0.82[ASN][1000 genomes]
rs7007023	0.86[ASN][1000 genomes]
rs7007213	0.87[ASN][1000 genomes]
rs71516582	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71516583	0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7815466	0.89[ASN][1000 genomes]
rs7820225	0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs7842540	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7843134	0.95[EUR][1000 genomes]
rs7846127	0.80[ASN][1000 genomes]
rs7846484	0.91[ASN][1000 genomes]
rs9801782	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1022994	chr8:10190618-10660122	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv539466	chr8:10190618-10660122	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1025557	chr8:10216726-10555187	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv917085	chr8:10237508-10828204	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv610267	chr8:10268736-10526742	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1030856	chr8:10303099-10439064	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv610268	chr8:10331636-10486652	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv1025251	chr8:10343591-10488557	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
10	nsv1015932	chr8:10357101-10597856	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10402600-10405200	Enhancers	Fetal Brain Male	brain
2	chr8:10402800-10404800	Enhancers	Colon Smooth Muscle	Colon
3	chr8:10403000-10404000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr8:10403000-10404000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:10403000-10404200	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr8:10403000-10404600	Enhancers	Rectal Mucosa Donor 29	rectum
7	chr8:10403000-10404600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr8:10403000-10405400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr8:10403000-10405400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:10403000-10405600	Enhancers	Left Ventricle	heart
11	chr8:10403200-10404000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr8:10403200-10404000	Enhancers	Brain Anterior Caudate	brain
13	chr8:10403200-10404000	Enhancers	Colonic Mucosa	Colon
14	chr8:10403200-10404800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr8:10403200-10406200	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:10403200-10406200	Enhancers	Right Ventricle	heart
17	chr8:10403200-10407000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr8:10403400-10404000	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:10403400-10404000	Enhancers	Psoas Muscle	Psoas
20	chr8:10403400-10405400	Enhancers	Fetal Heart	heart
21	chr8:10403400-10405800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:10403400-10406600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr8:10403400-10407200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
24	chr8:10403400-10412000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:10403600-10404000	Enhancers	Brain Hippocampus Middle	brain
26	chr8:10403600-10404200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
27	chr8:10403600-10404800	Enhancers	Fetal Brain Female	brain
28	chr8:10403600-10404800	Enhancers	Right Atrium	heart
29	chr8:10403600-10405400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr8:10403600-10405600	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr8:10403600-10406000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr8:10403800-10404000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:10403800-10404000	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr8:10403800-10404200	Enhancers	NHDF-Ad	bronchial
35	chr8:10403800-10404400	Enhancers	HSMMtube	muscle
36	chr8:10403800-10404600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr8:10403800-10404600	Enhancers	Stomach Smooth Muscle	stomach
38	chr8:10403800-10408200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:10403800-10408200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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