Variant report

Variant	rs2340723
Chromosome Location	chr1:161940254-161940255
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	chr1:161934463..161936874-chr1:161938543..161943088,4	K562	blood:
2	chr1:161919306..161921320-chr1:161939267..161942009,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10429885	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10737521	0.86[ASN][1000 genomes]
rs10800175	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2340724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28505989	0.81[AFR][1000 genomes]
rs28628087	0.86[AFR][1000 genomes]
rs3795649	0.82[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs9783050	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9783069	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33393	chr1:161478681-162080327	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv464206	chr1:161798239-162067447	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv470744	chr1:161798239-162067447	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv548077	chr1:161798239-162067447	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1007108	chr1:161925814-162002917	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv831747	chr1:161926367-162103311	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers 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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161902800-161943400	Weak transcription	Esophagus	oesophagus
2	chr1:161904800-161956600	Weak transcription	Fetal Brain Male	brain
3	chr1:161912600-161941600	Weak transcription	Fetal Kidney	kidney
4	chr1:161926200-161942200	Weak transcription	Right Ventricle	heart
5	chr1:161927000-161944000	Weak transcription	Colonic Mucosa	Colon
6	chr1:161928400-161941800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:161929000-161943800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:161929200-161944000	Weak transcription	Ovary	ovary
9	chr1:161931000-161943200	Weak transcription	Placenta	Placenta
10	chr1:161931200-161940400	Weak transcription	Fetal Thymus	thymus
11	chr1:161931200-161940600	Weak transcription	Fetal Intestine Large	intestine
12	chr1:161931200-161942400	Weak transcription	Spleen	Spleen
13	chr1:161931200-161943400	Weak transcription	Psoas Muscle	Psoas
14	chr1:161931400-161943400	Weak transcription	K562	blood
15	chr1:161931800-161942800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr1:161932400-161942200	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:161932400-161955400	Weak transcription	Brain Substantia Nigra	brain
18	chr1:161932600-161940400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr1:161932600-161940400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:161932600-161940400	Weak transcription	Brain Anterior Caudate	brain
21	chr1:161932600-161943200	Weak transcription	Adipose Nuclei	Adipose
22	chr1:161932600-161943200	Weak transcription	Right Atrium	heart
23	chr1:161932600-161943800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:161932800-161943200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:161932800-161944000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:161933200-161940400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:161933400-161940400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:161933400-161941800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:161933600-161942000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr1:161933600-161953400	Weak transcription	HSMMtube	muscle
31	chr1:161936200-161940400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:161936200-161940400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:161936200-161940400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:161937000-161942800	Weak transcription	Left Ventricle	heart
35	chr1:161937400-161941800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr1:161937400-161944000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:161937600-161940400	Weak transcription	Thymus	Thymus
38	chr1:161937600-161941800	Weak transcription	Fetal Stomach	stomach
39	chr1:161937600-161954800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:161938000-161942000	Weak transcription	Primary T cells from cord blood	blood
41	chr1:161938000-161942800	Weak transcription	Gastric	stomach
42	chr1:161938000-161944000	Weak transcription	Liver	Liver
43	chr1:161938000-161944000	Weak transcription	Pancreas	Pancrea
44	chr1:161939000-161940400	Weak transcription	Lung	lung
45	chr1:161939000-161940600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:161939000-161943000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:161939200-161942000	Enhancers	Fetal Muscle Trunk	muscle
48	chr1:161939200-161946000	Enhancers	Fetal Muscle Leg	muscle
49	chr1:161939200-161956600	Weak transcription	Fetal Intestine Small	intestine
50	chr1:161939400-161940400	Enhancers	Skeletal Muscle Male	skeletal muscle

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