Variant report

Variant	rs55712037
Chromosome Location	chr8:118933638-118933639
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118931174..118933770-chr8:118938914..118940644,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10505323	0.82[AFR][1000 genomes]
rs10955840	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11562778	0.82[AFR][1000 genomes]
rs17430694	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17430728	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17430749	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17453119	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17504547	0.85[AFR][1000 genomes]
rs73322061	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118922800-118934800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:118923800-118933800	Weak transcription	Fetal Stomach	stomach
3	chr8:118927000-118935000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:118931000-118934400	Weak transcription	Psoas Muscle	Psoas
5	chr8:118931000-118935000	Weak transcription	Pancreas	Pancrea
6	chr8:118931600-118934000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:118932000-118935200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:118932400-118934000	Enhancers	Placenta	Placenta
9	chr8:118932400-118935200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:118932400-118935400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:118932400-118935400	Enhancers	NHDF-Ad	bronchial
12	chr8:118932600-118933800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:118932600-118934000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:118932600-118934000	Enhancers	NH-A	brain
15	chr8:118932600-118934600	Enhancers	Fetal Lung	lung
16	chr8:118932600-118934600	Enhancers	NHLF	lung
17	chr8:118932600-118935000	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:118932600-118935000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:118932600-118935000	Enhancers	Fetal Heart	heart
20	chr8:118932600-118935200	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr8:118932600-118935200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr8:118932600-118935200	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:118932600-118935400	Enhancers	Muscle Satellite Cultured Cells	--
24	chr8:118932600-118937000	Enhancers	HSMM	muscle
25	chr8:118932800-118933800	Enhancers	Adipose Nuclei	Adipose
26	chr8:118932800-118934000	Enhancers	HMEC	breast
27	chr8:118932800-118934200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:118932800-118934400	Enhancers	Aorta	Aorta
29	chr8:118932800-118934600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:118932800-118934600	Enhancers	GM12878-XiMat	blood
31	chr8:118932800-118935000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr8:118932800-118935000	Enhancers	HUVEC	blood vessel
33	chr8:118932800-118935200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:118932800-118935200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr8:118932800-118935200	Enhancers	Liver	Liver
36	chr8:118932800-118935200	Enhancers	A549	lung
37	chr8:118933000-118933800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr8:118933000-118933800	Enhancers	Fetal Intestine Large	intestine
39	chr8:118933000-118933800	Enhancers	Right Ventricle	heart
40	chr8:118933000-118934800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr8:118933000-118934800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr8:118933000-118935000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:118933000-118935000	Enhancers	Colon Smooth Muscle	Colon
44	chr8:118933000-118935200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr8:118933000-118935200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:118933200-118933800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:118933200-118934800	Weak transcription	Esophagus	oesophagus
48	chr8:118933200-118934800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr8:118933200-118935200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr8:118933200-118935400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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