Variant report

Variant	rs73128442
Chromosome Location	chr1:224435973-224435974
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:224435031..224436548-chr1:224450622..224452508,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10495221	1.00[EUR][1000 genomes]
rs11801211	1.00[EUR][1000 genomes]
rs11802182	1.00[EUR][1000 genomes]
rs11807149	1.00[EUR][1000 genomes]
rs11809688	1.00[EUR][1000 genomes]
rs11809710	1.00[EUR][1000 genomes]
rs11810160	1.00[EUR][1000 genomes]
rs11811935	1.00[EUR][1000 genomes]
rs11812007	1.00[EUR][1000 genomes]
rs12239235	1.00[EUR][1000 genomes]
rs12239466	1.00[EUR][1000 genomes]
rs1401319	1.00[EUR][1000 genomes]
rs16846190	1.00[EUR][1000 genomes]
rs16846212	1.00[EUR][1000 genomes]
rs16846293	1.00[EUR][1000 genomes]
rs16846494	1.00[EUR][1000 genomes]
rs16847675	1.00[EUR][1000 genomes]
rs16847784	1.00[EUR][1000 genomes]
rs16847858	1.00[EUR][1000 genomes]
rs16847870	1.00[EUR][1000 genomes]
rs16847871	1.00[EUR][1000 genomes]
rs1857042	1.00[EUR][1000 genomes]
rs2068945	1.00[EUR][1000 genomes]
rs4653586	1.00[EUR][1000 genomes]
rs57469223	1.00[EUR][1000 genomes]
rs57719044	1.00[EUR][1000 genomes]
rs57967341	1.00[EUR][1000 genomes]
rs58304668	1.00[EUR][1000 genomes]
rs58649883	1.00[EUR][1000 genomes]
rs58788859	1.00[EUR][1000 genomes]
rs58954846	1.00[EUR][1000 genomes]
rs59561838	1.00[EUR][1000 genomes]
rs59577766	1.00[EUR][1000 genomes]
rs59710928	1.00[EUR][1000 genomes]
rs60349703	1.00[EUR][1000 genomes]
rs60627429	1.00[EUR][1000 genomes]
rs60715845	1.00[EUR][1000 genomes]
rs60831135	1.00[EUR][1000 genomes]
rs61000820	1.00[EUR][1000 genomes]
rs61056357	1.00[EUR][1000 genomes]
rs61162360	1.00[EUR][1000 genomes]
rs61278437	1.00[EUR][1000 genomes]
rs6426167	1.00[EUR][1000 genomes]
rs6660074	1.00[AMR][1000 genomes]
rs6664674	1.00[EUR][1000 genomes]
rs6674133	1.00[EUR][1000 genomes]
rs6681611	1.00[EUR][1000 genomes]
rs6702649	1.00[EUR][1000 genomes]
rs73121865	1.00[EUR][1000 genomes]
rs73122500	1.00[EUR][1000 genomes]
rs73123788	1.00[EUR][1000 genomes]
rs73123791	1.00[EUR][1000 genomes]
rs73124468	1.00[EUR][1000 genomes]
rs73124491	1.00[EUR][1000 genomes]
rs73124493	1.00[EUR][1000 genomes]
rs73125526	1.00[EUR][1000 genomes]
rs73125529	1.00[EUR][1000 genomes]
rs73126411	1.00[EUR][1000 genomes]
rs73128424	1.00[AMR][1000 genomes]
rs73128429	1.00[AMR][1000 genomes]
rs73128433	1.00[AMR][1000 genomes]
rs7514645	1.00[AMR][1000 genomes]
rs7541012	1.00[AMR][1000 genomes]
rs7553633	1.00[AMR][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	nsv873223	chr1:224367232-224467117	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224401800-224475400	Weak transcription	Esophagus	oesophagus
2	chr1:224411600-224438000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:224411600-224454400	Weak transcription	Psoas Muscle	Psoas
4	chr1:224412400-224473600	Weak transcription	HepG2	liver
5	chr1:224414200-224438000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:224415000-224436200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:224415000-224440000	Weak transcription	Fetal Kidney	kidney
8	chr1:224416000-224436600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:224416000-224465600	Weak transcription	Small Intestine	intestine
10	chr1:224418000-224436600	Weak transcription	Right Ventricle	heart
11	chr1:224418400-224439400	Weak transcription	HSMMtube	muscle
12	chr1:224419200-224436600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:224423800-224439400	Weak transcription	Right Atrium	heart
14	chr1:224424200-224436000	Weak transcription	Fetal Lung	lung
15	chr1:224424600-224451600	Weak transcription	Aorta	Aorta
16	chr1:224424600-224479600	Weak transcription	Pancreas	Pancrea
17	chr1:224424800-224454200	Weak transcription	HSMM	muscle
18	chr1:224425600-224470000	Weak transcription	NHDF-Ad	bronchial
19	chr1:224426600-224439200	Weak transcription	Spleen	Spleen
20	chr1:224427600-224436000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:224427600-224438200	Strong transcription	Fetal Intestine Small	intestine
22	chr1:224427800-224436200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr1:224427800-224444000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr1:224429000-224436200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:224429000-224438600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:224430200-224438600	Strong transcription	Fetal Stomach	stomach
27	chr1:224431200-224490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:224432800-224437800	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:224432800-224438000	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:224433000-224437200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:224433000-224438000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:224433000-224438000	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:224433000-224438600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr1:224433200-224437800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:224433400-224436800	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr1:224433400-224516200	Weak transcription	Fetal Heart	heart
37	chr1:224433600-224438400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:224434000-224437000	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr1:224434000-224437000	Strong transcription	K562	blood
40	chr1:224434000-224438000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:224434000-224438000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:224434000-224438000	Strong transcription	Liver	Liver
43	chr1:224434000-224438000	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:224434000-224438000	Strong transcription	Placenta	Placenta
45	chr1:224434000-224438600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr1:224434200-224437000	Strong transcription	Brain Cingulate Gyrus	brain
47	chr1:224434200-224437200	Strong transcription	Duodenum Mucosa	Duodenum
48	chr1:224434200-224437600	Strong transcription	Primary B cells from cord blood	blood
49	chr1:224434200-224437600	Strong transcription	Brain Hippocampus Middle	brain
50	chr1:224434200-224437800	Strong transcription	Adipose Nuclei	Adipose

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