Variant report

Variant	rs74130478
Chromosome Location	chr10:50316993-50316994
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50314500..50318570-chr10:50326499..50328270,3	K562	blood:
2	chr10:50298074..50299624-chr10:50316267..50318551,2	K562	blood:
3	chr10:50303445..50305723-chr10:50315132..50317304,2	K562	blood:
4	chr10:50314896..50317280-chr10:50385638..50388577,2	K562	blood:

Variant related genes	Relation type
ENSG00000204161	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56045103	1.00[AMR][1000 genomes]
rs56673489	1.00[AFR][1000 genomes]
rs59909949	1.00[AMR][1000 genomes]
rs61733226	1.00[AMR][1000 genomes]
rs74130416	1.00[AMR][1000 genomes]
rs74130417	1.00[AMR][1000 genomes]
rs74130420	1.00[AMR][1000 genomes]
rs74130468	1.00[AMR][1000 genomes]
rs74130482	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831866	chr10:50165180-50335276	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	esv2761593	chr10:50276812-50336129	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	esv1824894	chr10:50309905-50340304	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50304800-50317600	Weak transcription	Fetal Heart	heart
2	chr10:50311800-50317800	Weak transcription	Fetal Intestine Large	intestine
3	chr10:50312200-50320400	Enhancers	Colon Smooth Muscle	Colon
4	chr10:50312600-50317000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr10:50312600-50322800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr10:50314400-50321400	Genic enhancers	Fetal Stomach	stomach
7	chr10:50314600-50318000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr10:50314600-50318000	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr10:50314600-50318000	Enhancers	Placenta	Placenta
10	chr10:50314600-50319800	Enhancers	Lung	lung
11	chr10:50314600-50320200	Enhancers	Right Atrium	heart
12	chr10:50314600-50321000	Genic enhancers	Fetal Muscle Leg	muscle
13	chr10:50315000-50317800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr10:50315000-50318800	Weak transcription	Psoas Muscle	Psoas
15	chr10:50315000-50322600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:50315200-50318000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr10:50315400-50317000	Strong transcription	Fetal Intestine Small	intestine
18	chr10:50315400-50317800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr10:50315400-50319400	Weak transcription	Aorta	Aorta
20	chr10:50315400-50319600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr10:50315400-50323000	Weak transcription	Pancreas	Pancrea
22	chr10:50315600-50317000	Weak transcription	Colonic Mucosa	Colon
23	chr10:50315600-50317000	Weak transcription	NHDF-Ad	bronchial
24	chr10:50315600-50317200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:50315600-50317200	Weak transcription	NHLF	lung
26	chr10:50315600-50317600	Weak transcription	Brain Hippocampus Middle	brain
27	chr10:50315600-50317800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr10:50315600-50323000	Weak transcription	Spleen	Spleen
29	chr10:50315800-50317000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr10:50315800-50317200	Weak transcription	Adipose Nuclei	Adipose
31	chr10:50315800-50317200	Weak transcription	Brain Substantia Nigra	brain
32	chr10:50315800-50317200	Enhancers	Stomach Smooth Muscle	stomach
33	chr10:50315800-50317800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr10:50315800-50317800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr10:50315800-50318000	Weak transcription	Esophagus	oesophagus
36	chr10:50315800-50320600	Enhancers	Fetal Lung	lung
37	chr10:50315800-50322200	Enhancers	Left Ventricle	heart
38	chr10:50315800-50322600	Weak transcription	Liver	Liver
39	chr10:50316000-50317200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:50316000-50317200	Weak transcription	Brain Angular Gyrus	brain
41	chr10:50316000-50318000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr10:50316000-50321200	Enhancers	Right Ventricle	heart
43	chr10:50316000-50321600	Enhancers	Ovary	ovary
44	chr10:50316200-50317000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:50316200-50317000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr10:50316200-50317200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr10:50316200-50317600	Weak transcription	Brain Anterior Caudate	brain
48	chr10:50316400-50317400	Enhancers	K562	blood
49	chr10:50316600-50318200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr10:50316600-50320200	Weak transcription	Fetal Thymus	thymus

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