Variant report

Variant	rs74131681
Chromosome Location	chr1:184425878-184425879
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	chr1:184424018..184426734-chr1:184430772..184432362,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16823226	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35719021	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56933148	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58373918	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74131686	0.89[AFR][1000 genomes]
rs74131688	0.89[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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2756618	chr1:184393343-184674343	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184396400-184430000	Weak transcription	Spleen	Spleen
2	chr1:184412800-184430200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:184413000-184426600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:184413000-184429600	Weak transcription	Brain Angular Gyrus	brain
5	chr1:184413200-184430000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:184419200-184438400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:184419400-184426000	Weak transcription	HMEC	breast
8	chr1:184419600-184426600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:184419600-184426600	Weak transcription	Right Atrium	heart
10	chr1:184419600-184426800	Weak transcription	NHEK	skin
11	chr1:184419600-184428800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:184419600-184428800	Weak transcription	Right Ventricle	heart
13	chr1:184419600-184432600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:184419800-184426800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:184421400-184427400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr1:184421400-184433000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:184421800-184426800	Weak transcription	Pancreas	Pancrea
18	chr1:184422000-184427800	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr1:184422400-184426600	Weak transcription	Esophagus	oesophagus
20	chr1:184422600-184426600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:184422600-184426800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:184422800-184426000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr1:184423000-184428200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:184423000-184431200	Weak transcription	Fetal Intestine Small	intestine
25	chr1:184423200-184426400	Weak transcription	Fetal Lung	lung
26	chr1:184423200-184426800	Weak transcription	Stomach Mucosa	stomach
27	chr1:184423200-184427400	Enhancers	Psoas Muscle	Psoas
28	chr1:184423800-184426600	Weak transcription	Fetal Stomach	stomach
29	chr1:184423800-184426800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:184424000-184426400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr1:184424000-184426600	Weak transcription	Left Ventricle	heart
32	chr1:184424000-184426600	Weak transcription	Lung	lung
33	chr1:184424000-184430200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:184424000-184436400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:184424200-184426200	Enhancers	Colon Smooth Muscle	Colon
36	chr1:184424400-184426000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:184424400-184426000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr1:184424400-184428600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:184424400-184428800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:184424400-184429000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:184424400-184430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:184424600-184426000	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:184424600-184426200	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr1:184424800-184426800	Weak transcription	Small Intestine	intestine
45	chr1:184424800-184428600	Enhancers	Fetal Heart	heart
46	chr1:184424800-184429200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:184425400-184426800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr1:184425400-184428800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr1:184425400-184442200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:184425600-184427200	Enhancers	Fetal Brain Male	brain

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