Variant report

Variant	rs16831421
Chromosome Location	chr2:153455230-153455231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16831371	1.00[EUR][1000 genomes]
rs16831391	1.00[EUR][1000 genomes]
rs57196961	1.00[EUR][1000 genomes]
rs6725060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	chr2:153416400-153465200	Weak transcription	Left Ventricle	heart
3	chr2:153423800-153471200	Weak transcription	Fetal Kidney	kidney
4	chr2:153428000-153468200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:153428200-153456000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:153429200-153456200	Weak transcription	Spleen	Spleen
7	chr2:153434200-153473600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:153435400-153473200	Weak transcription	Right Ventricle	heart
9	chr2:153438200-153456000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:153438400-153475400	Weak transcription	Pancreas	Pancrea
11	chr2:153438600-153456400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:153438600-153464000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:153438800-153463800	Weak transcription	Fetal Lung	lung
14	chr2:153439800-153456200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:153441000-153468000	Weak transcription	Fetal Intestine Large	intestine
16	chr2:153442800-153468000	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:153442800-153471600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:153443000-153476400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:153443600-153465400	Weak transcription	Ovary	ovary
20	chr2:153444200-153455600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:153444600-153456000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:153444600-153456800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:153444600-153456800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:153444600-153468200	Weak transcription	HUVEC	blood vessel
25	chr2:153444600-153468200	Weak transcription	NH-A	brain
26	chr2:153444800-153456000	Weak transcription	HMEC	breast
27	chr2:153444800-153456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:153446400-153465400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr2:153446800-153463600	Weak transcription	Placenta	Placenta
30	chr2:153448400-153455600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:153448400-153459200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:153448400-153461000	Weak transcription	Fetal Intestine Small	intestine
33	chr2:153448600-153459200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:153448600-153461600	Weak transcription	Fetal Stomach	stomach
35	chr2:153448600-153468200	Weak transcription	Lung	lung
36	chr2:153451200-153455600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:153451200-153476200	Weak transcription	Gastric	stomach
38	chr2:153451400-153455600	Weak transcription	NHDF-Ad	bronchial
39	chr2:153451400-153468000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:153451400-153473600	Weak transcription	Aorta	Aorta
41	chr2:153451600-153456000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:153451600-153456800	Weak transcription	Fetal Thymus	thymus
43	chr2:153451800-153456000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:153451800-153456800	Weak transcription	HSMMtube	muscle
45	chr2:153451800-153457000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:153451800-153457000	Weak transcription	Adipose Nuclei	Adipose
47	chr2:153452000-153455400	Weak transcription	Psoas Muscle	Psoas
48	chr2:153452000-153455600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr2:153452000-153455600	Weak transcription	Brain Cingulate Gyrus	brain
50	chr2:153452000-153456000	Weak transcription	Fetal Muscle Leg	muscle

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