Variant report

Variant	rs30843
Chromosome Location	chr16:58742480-58742481
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:58742292..58743873-chr16:58764921..58766535,2	K562	blood:
2	chr16:58741476..58744157-chr16:58748760..58750425,2	K562	blood:

Variant related genes	Relation type
ENSG00000125166	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs11076263	0.82[EUR][1000 genomes]
rs11646756	0.82[EUR][1000 genomes]
rs12325054	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12325510	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12598527	0.82[EUR][1000 genomes]
rs12600201	0.82[EUR][1000 genomes]
rs12600206	0.82[EUR][1000 genomes]
rs12935488	0.82[EUR][1000 genomes]
rs1364346	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1473205	0.88[EUR][1000 genomes]
rs1473206	0.88[EUR][1000 genomes]
rs151817	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1615326	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1616798	0.82[EUR][1000 genomes]
rs1627257	0.82[EUR][1000 genomes]
rs1628029	0.82[EUR][1000 genomes]
rs1646262	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1646270	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1646273	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1646276	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1646277	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1646283	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1646289	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1646290	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1657162	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1657165	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1657168	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1657175	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1657179	0.89[EUR][1000 genomes]
rs190473	0.81[AMR][1000 genomes]
rs244919	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs257623	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs257625	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs257626	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs30835	0.81[ASN][1000 genomes]
rs30839	0.81[ASN][1000 genomes]
rs62066815	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62066843	0.82[EUR][1000 genomes]
rs6993	0.87[ASN][1000 genomes]
rs982848	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv510686	chr16:58646119-58765894	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1065296	chr16:58738198-58837859	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	n/a
5	nsv984340	chr16:58741302-58743315	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58735800-58752000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:58737600-58743000	Weak transcription	HUVEC	blood vessel
3	chr16:58738200-58757800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:58738200-58758000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:58738400-58759800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr16:58738400-58766600	Weak transcription	Stomach Mucosa	stomach
7	chr16:58739000-58743600	Strong transcription	Fetal Thymus	thymus
8	chr16:58739000-58745000	Weak transcription	Colonic Mucosa	Colon
9	chr16:58739000-58746200	Strong transcription	Fetal Muscle Leg	muscle
10	chr16:58739000-58757800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr16:58739200-58743400	Weak transcription	Fetal Kidney	kidney
12	chr16:58739200-58743800	Strong transcription	Brain Anterior Caudate	brain
13	chr16:58739200-58744200	Strong transcription	HMEC	breast
14	chr16:58739200-58745200	Weak transcription	HSMMtube	muscle
15	chr16:58739200-58746400	Strong transcription	Brain Hippocampus Middle	brain
16	chr16:58739200-58750400	Strong transcription	Fetal Stomach	stomach
17	chr16:58739200-58758000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr16:58739200-58758000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr16:58739200-58758400	Strong transcription	Primary T cells from cord blood	blood
20	chr16:58739200-58759000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr16:58739200-58759600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr16:58739400-58743600	Strong transcription	Lung	lung
23	chr16:58739400-58747800	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr16:58739400-58752000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr16:58739400-58758400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr16:58739600-58742600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr16:58739600-58743800	Strong transcription	NHEK	skin
28	chr16:58739600-58744000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:58739600-58744000	Strong transcription	Fetal Brain Female	brain
30	chr16:58739600-58744000	Strong transcription	A549	lung
31	chr16:58739600-58744200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:58739600-58746400	Strong transcription	K562	blood
33	chr16:58739600-58748200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr16:58739600-58753000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:58739600-58757600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr16:58739600-58757800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr16:58739600-58758000	Strong transcription	Fetal Muscle Trunk	muscle
38	chr16:58739600-58758200	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr16:58739600-58758400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr16:58739800-58743600	Strong transcription	Spleen	Spleen
41	chr16:58739800-58743800	Strong transcription	H9 Cell Line	embryonic stem cell
42	chr16:58739800-58743800	Strong transcription	Primary hematopoietic stem cells	blood
43	chr16:58739800-58744000	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr16:58739800-58744200	Strong transcription	Brain Germinal Matrix	brain
45	chr16:58739800-58744200	Strong transcription	Esophagus	oesophagus
46	chr16:58739800-58744200	Strong transcription	Fetal Lung	lung
47	chr16:58739800-58744600	Strong transcription	Fetal Intestine Small	intestine
48	chr16:58739800-58747800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr16:58739800-58750400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr16:58739800-58753400	Strong transcription	Sigmoid Colon	Sigmoid Colon

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