Variant report

Variant	rs3811573
Chromosome Location	chr2:153440714-153440715
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	chr2:153439083..153441750-chr2:153449195..153451326,2	K562	blood:
2	chr2:153439236..153441147-chr2:153442384..153444667,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10497110	0.82[ASW][hapmap];0.97[LWK][hapmap];0.90[MKK][hapmap];0.88[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs16823801	0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73008185	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73008190	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73008193	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73008196	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73008200	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153400000-153468200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:153400600-153442000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:153403200-153448000	Weak transcription	Lung	lung
4	chr2:153404200-153442400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr2:153405200-153441800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:153416400-153454200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:153416400-153465200	Weak transcription	Left Ventricle	heart
8	chr2:153417800-153442000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:153418800-153444600	Weak transcription	Fetal Brain Male	brain
10	chr2:153420400-153443400	Weak transcription	Fetal Intestine Small	intestine
11	chr2:153423800-153471200	Weak transcription	Fetal Kidney	kidney
12	chr2:153428000-153442000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:153428000-153468200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:153428200-153456000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:153429200-153456200	Weak transcription	Spleen	Spleen
16	chr2:153429600-153442200	Strong transcription	HepG2	liver
17	chr2:153430000-153449400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:153430200-153440800	Weak transcription	NHLF	lung
19	chr2:153430400-153441200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:153434200-153442600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:153434200-153473600	Weak transcription	Brain Germinal Matrix	brain
22	chr2:153434400-153442000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:153434400-153454400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:153434600-153442000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:153434600-153442400	Weak transcription	Small Intestine	intestine
26	chr2:153434800-153441400	Weak transcription	Ovary	ovary
27	chr2:153435200-153441600	Enhancers	Brain Substantia Nigra	brain
28	chr2:153435400-153473200	Weak transcription	Right Ventricle	heart
29	chr2:153435600-153455200	Weak transcription	Hela-S3	cervix
30	chr2:153436600-153444800	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:153437400-153441200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:153437400-153441200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:153437800-153442000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:153438000-153440800	Strong transcription	NHEK	skin
35	chr2:153438200-153441800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:153438200-153456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:153438400-153441000	Weak transcription	NHDF-Ad	bronchial
38	chr2:153438400-153442000	Weak transcription	HSMMtube	muscle
39	chr2:153438400-153442600	Weak transcription	Adipose Nuclei	Adipose
40	chr2:153438400-153444200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:153438400-153475400	Weak transcription	Pancreas	Pancrea
42	chr2:153438600-153440800	Enhancers	HUVEC	blood vessel
43	chr2:153438600-153441400	Enhancers	Brain Hippocampus Middle	brain
44	chr2:153438600-153442000	Weak transcription	Brain Angular Gyrus	brain
45	chr2:153438600-153443400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:153438600-153444800	Weak transcription	Fetal Brain Female	brain
47	chr2:153438600-153456400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:153438600-153464000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:153438800-153441800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:153438800-153442000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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