Variant report

Variant	rs74130927
Chromosome Location	chr1:193135174-193135175
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:192878910..192881090-chr1:193133221..193136133,2	K562	blood:
2	chr1:193133772..193136004-chr1:193215250..193217762,2	K562	blood:
3	chr1:193091553..193093359-chr1:193132877..193135445,2	K562	blood:
4	chr1:193071262..193074086-chr1:193134961..193136816,2	K562	blood:

Variant related genes	Relation type
ENSG00000134371	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs16835169	0.83[AMR][1000 genomes]
rs56067713	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58056953	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665739	0.83[AMR][1000 genomes]
rs6665751	0.83[AMR][1000 genomes]
rs6682435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6683844	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130921	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130922	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130925	0.83[AMR][1000 genomes]
rs74130929	0.83[AMR][1000 genomes]
rs74130930	0.83[AMR][1000 genomes]
rs74130931	1.00[AFR][1000 genomes]
rs7531808	0.87[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193092600-193141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:193094800-193155000	Weak transcription	Aorta	Aorta
3	chr1:193101000-193140000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:193106000-193140800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:193110000-193139600	Weak transcription	Esophagus	oesophagus
6	chr1:193110000-193149400	Weak transcription	Right Ventricle	heart
7	chr1:193110000-193155200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:193111600-193137600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:193115800-193142000	Weak transcription	Spleen	Spleen
10	chr1:193116600-193149400	Weak transcription	Brain Germinal Matrix	brain
11	chr1:193118000-193147800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr1:193119600-193137600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:193120200-193141600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr1:193120400-193150400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:193120600-193135800	Weak transcription	Psoas Muscle	Psoas
16	chr1:193120600-193142000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:193121000-193143800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:193121000-193155200	Weak transcription	Pancreas	Pancrea
19	chr1:193121600-193137400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr1:193122400-193142400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:193123200-193140000	Weak transcription	Ovary	ovary
22	chr1:193123200-193147400	Weak transcription	Fetal Brain Female	brain
23	chr1:193123200-193151600	Weak transcription	Fetal Kidney	kidney
24	chr1:193123200-193153600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:193123400-193139000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:193123400-193140000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:193123400-193140000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:193123400-193140000	Weak transcription	HSMMtube	muscle
29	chr1:193123400-193142000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr1:193123400-193143000	Weak transcription	Lung	lung
31	chr1:193123400-193147600	Weak transcription	Fetal Brain Male	brain
32	chr1:193123400-193155200	Weak transcription	Thymus	Thymus
33	chr1:193123600-193140000	Weak transcription	Fetal Lung	lung
34	chr1:193123600-193149600	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:193123800-193141600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:193123800-193141800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:193123800-193147800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:193123800-193150400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr1:193123800-193153200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:193124000-193152000	Weak transcription	Liver	Liver
41	chr1:193124000-193153600	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr1:193124000-193154200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr1:193124200-193135600	Weak transcription	GM12878-XiMat	blood
44	chr1:193124200-193139800	Weak transcription	Adipose Nuclei	Adipose
45	chr1:193124200-193150400	Weak transcription	NHDF-Ad	bronchial
46	chr1:193124800-193141400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr1:193125200-193152200	Weak transcription	A549	lung
48	chr1:193125800-193138200	Weak transcription	Primary B cells from cord blood	blood
49	chr1:193125800-193142000	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr1:193126000-193142400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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