Variant report

Variant	rs61843430
Chromosome Location	chr10:43428928-43428929
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:43426456..43429844-chr10:43434614..43436862,3	K562	blood:
2	chr10:43428250..43429844-chr10:43434863..43436862,2	K562	blood:
3	chr10:43428399..43431040-chr10:43431143..43434536,4	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12569973	0.99[ASN][1000 genomes]
rs12572458	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12572459	1.00[ASN][1000 genomes]
rs12572471	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17158301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17158304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58477795	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61843422	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61843423	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61843424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61843425	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61843426	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61843428	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61843431	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61843432	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61843434	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61843435	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61843439	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61843440	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74135422	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74135423	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74135424	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs74135429	0.83[EUR][1000 genomes]
rs750328	0.98[ASN][1000 genomes]
rs7899660	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7900242	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7922188	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv550672	chr10:42753190-43441729	Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats 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	40 gene(s)	inside rSNPs	diseases
2	nsv1042764	chr10:42846383-43511712	Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1050394	chr10:42890663-43604956	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
4	nsv540573	chr10:42890663-43604956	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv534548	chr10:42890664-43729688	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv2758216	chr10:42965131-43510191	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	esv2759746	chr10:42965131-43510191	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43427400-43429600	Bivalent Enhancer	Fetal Muscle Leg	muscle
2	chr10:43428000-43429200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr10:43428000-43429600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr10:43428000-43429600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr10:43428000-43429800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:43428000-43429800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:43428000-43429800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
8	chr10:43428200-43429000	Active TSS	Thymus	Thymus
9	chr10:43428200-43429400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr10:43428200-43429600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr10:43428400-43429000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr10:43428400-43429000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:43428400-43429000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:43428400-43429000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr10:43428400-43429000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr10:43428400-43429000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr10:43428400-43429000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
18	chr10:43428400-43429000	Bivalent/Poised TSS	NHEK	skin
19	chr10:43428400-43429200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr10:43428400-43429200	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr10:43428400-43429200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr10:43428400-43429200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr10:43428400-43429200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
24	chr10:43428400-43429200	Enhancers	Liver	Liver
25	chr10:43428400-43429200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
26	chr10:43428400-43429200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
27	chr10:43428400-43429400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr10:43428400-43429400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr10:43428400-43429400	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr10:43428400-43429400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
31	chr10:43428400-43429400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr10:43428400-43429400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr10:43428400-43429400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
34	chr10:43428400-43429400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
35	chr10:43428400-43429600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr10:43428400-43429600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
37	chr10:43428400-43429600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
38	chr10:43428400-43429600	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr10:43428400-43429600	Bivalent Enhancer	Esophagus	oesophagus
40	chr10:43428400-43429600	Bivalent Enhancer	Fetal Brain Male	brain
41	chr10:43428400-43429600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
42	chr10:43428400-43429600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
43	chr10:43428400-43429800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:43428400-43429800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
45	chr10:43428400-43429800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
46	chr10:43428400-43429800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr10:43428400-43429800	Bivalent Enhancer	Fetal Stomach	stomach
48	chr10:43428400-43429800	Flanking Active TSS	Fetal Thymus	thymus
49	chr10:43428400-43430000	Enhancers	Gastric	stomach
50	chr10:43428600-43429000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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