Variant report

Variant	rs10418312
Chromosome Location	chr19:42937061-42937062
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42579722..42581439-chr19:42937006..42939501,2	K562	blood:
2	chr19:42910433..42912218-chr19:42935369..42937921,2	K562	blood:

Variant related genes	Relation type
ENSG00000079435	Chromatin interaction
ENSG00000105732	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10401224	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs10402438	1.00[EUR][1000 genomes]
rs10403856	1.00[AMR][1000 genomes]
rs10404650	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10406800	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10406972	1.00[EUR][1000 genomes]
rs10407085	1.00[EUR][1000 genomes]
rs10407155	1.00[EUR][1000 genomes]
rs10407842	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10408258	1.00[EUR][1000 genomes]
rs10408986	1.00[AMR][1000 genomes]
rs10409428	0.87[YRI][hapmap];1.00[EUR][1000 genomes]
rs10409433	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10409939	1.00[EUR][1000 genomes]
rs10410129	0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10410174	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10410653	0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411498	0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10411908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10413484	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414620	0.80[YRI][hapmap]
rs10414695	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10415759	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10415999	1.00[EUR][1000 genomes]
rs10416535	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10417606	1.00[AMR][1000 genomes]
rs10418102	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10418988	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10420327	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10421331	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10421409	0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421510	0.80[YRI][hapmap];1.00[EUR][1000 genomes]
rs10421857	0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10421902	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10422301	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422867	1.00[EUR][1000 genomes]
rs10423812	1.00[EUR][1000 genomes]
rs10423959	1.00[EUR][1000 genomes]
rs10423978	1.00[EUR][1000 genomes]
rs10424402	1.00[EUR][1000 genomes]
rs10425003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425320	1.00[EUR][1000 genomes]
rs10425783	1.00[EUR][1000 genomes]
rs10426267	1.00[EUR][1000 genomes]
rs10426284	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878207	0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878297	1.00[EUR][1000 genomes]
rs11879073	1.00[EUR][1000 genomes]
rs11879538	1.00[EUR][1000 genomes]
rs11880356	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11882107	1.00[EUR][1000 genomes]
rs11882801	1.00[EUR][1000 genomes]
rs12165130	1.00[EUR][1000 genomes]
rs13343322	0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343388	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343719	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343834	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13343966	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13346831	1.00[AMR][1000 genomes]
rs13346837	1.00[EUR][1000 genomes]
rs13346879	1.00[AMR][1000 genomes]
rs2229614	0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28402882	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28463673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28469564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28474957	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28483598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28496975	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28657829	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28663042	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28675019	1.00[EUR][1000 genomes]
rs28675764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28686771	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28699037	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28711448	1.00[EUR][1000 genomes]
rs28715574	1.00[EUR][1000 genomes]
rs33919763	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35707383	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36089262	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41407146	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59870753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60950516	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7246232	0.86[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7254853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258727	0.93[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73552879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73554520	1.00[EUR][1000 genomes]
rs73554531	1.00[EUR][1000 genomes]
rs73558432	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73560411	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8099885	0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109258	0.86[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9304602	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42928800-42937200	Weak transcription	Lung	lung
2	chr19:42928800-42937400	Weak transcription	Stomach Mucosa	stomach
3	chr19:42928800-42937600	Weak transcription	Brain Germinal Matrix	brain
4	chr19:42928800-42937600	Weak transcription	Gastric	stomach
5	chr19:42928800-42944800	Weak transcription	Esophagus	oesophagus
6	chr19:42929000-42937600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr19:42929400-42937400	Weak transcription	Spleen	Spleen
8	chr19:42929600-42945200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr19:42931600-42937200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr19:42931600-42937600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr19:42931800-42937200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr19:42932600-42937200	Weak transcription	Fetal Heart	heart
13	chr19:42932600-42937600	Weak transcription	Fetal Stomach	stomach
14	chr19:42933000-42937600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr19:42933200-42937600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr19:42934400-42937400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr19:42935000-42937200	Enhancers	Adipose Nuclei	Adipose
18	chr19:42936200-42940600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr19:42936400-42937200	Weak transcription	Brain Angular Gyrus	brain
20	chr19:42936600-42938000	Enhancers	Right Ventricle	heart
21	chr19:42936600-42939800	Enhancers	Left Ventricle	heart
22	chr19:42936600-42943200	Enhancers	HepG2	liver
23	chr19:42936800-42937200	Weak transcription	Right Atrium	heart
24	chr19:42936800-42937400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr19:42936800-42937400	Enhancers	A549	lung
26	chr19:42936800-42938000	Enhancers	Brain Hippocampus Middle	brain
27	chr19:42936800-42938000	Enhancers	Colon Smooth Muscle	Colon
28	chr19:42936800-42938000	Enhancers	Fetal Intestine Large	intestine
29	chr19:42936800-42938000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr19:42937000-42937600	Enhancers	Brain Anterior Caudate	brain
31	chr19:42937000-42937600	Enhancers	Hela-S3	cervix
32	chr19:42937000-42938000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr19:42937000-42938000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr19:42937000-42938000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:42937000-42938000	Enhancers	Brain Substantia Nigra	brain
36	chr19:42937000-42938000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr19:42937000-42938000	Enhancers	Fetal Intestine Small	intestine
38	chr19:42937000-42938000	Enhancers	Ovary	ovary
39	chr19:42937000-42938000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr19:42937000-42938000	Enhancers	K562	blood

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