Variant report

Variant	rs6713348
Chromosome Location	chr2:153308471-153308472
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	chr2:153301457..153305742-chr2:153308329..153310586,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10179418	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10208776	0.82[ASN][1000 genomes]
rs10432493	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13011152	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13390698	0.90[ASN][1000 genomes]
rs13424038	0.81[ASN][1000 genomes]
rs13427076	0.82[ASN][1000 genomes]
rs2078444	0.82[ASN][1000 genomes]
rs4664587	0.80[ASN][1000 genomes]
rs58121347	0.81[ASN][1000 genomes]
rs6737699	0.89[ASN][1000 genomes]
rs6747765	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748954	0.81[ASN][1000 genomes]
rs73002264	0.91[ASN][1000 genomes]
rs7587794	0.81[ASN][1000 genomes]
rs7606592	0.83[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	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	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
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	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
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153295400-153308600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:153295400-153311000	Weak transcription	Ovary	ovary
3	chr2:153298800-153308800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:153300600-153311200	Weak transcription	Lung	lung
5	chr2:153301000-153314200	Weak transcription	Placenta	Placenta
6	chr2:153301600-153311200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:153301800-153321000	Weak transcription	Right Atrium	heart
8	chr2:153302400-153312400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:153302400-153321600	Weak transcription	Left Ventricle	heart
10	chr2:153302600-153309200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:153302600-153309800	Weak transcription	Fetal Stomach	stomach
12	chr2:153302800-153311200	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:153302800-153314800	Weak transcription	Aorta	Aorta
14	chr2:153303000-153312600	Weak transcription	Hela-S3	cervix
15	chr2:153303200-153309200	Weak transcription	A549	lung
16	chr2:153303400-153311200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:153303400-153322600	Weak transcription	NHLF	lung
18	chr2:153303600-153311000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:153303600-153312000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:153304000-153309800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:153304400-153309200	Weak transcription	Fetal Muscle Trunk	muscle
22	chr2:153304400-153312400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:153304400-153321800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:153304600-153309600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:153304600-153312000	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:153304800-153308800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:153305000-153308600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr2:153305200-153308800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:153305200-153312000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:153305200-153312200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:153305200-153312400	Weak transcription	HMEC	breast
32	chr2:153305600-153321800	Weak transcription	Fetal Intestine Small	intestine
33	chr2:153305800-153308800	Weak transcription	Adipose Nuclei	Adipose
34	chr2:153305800-153309800	Weak transcription	Fetal Lung	lung
35	chr2:153306200-153309400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:153306200-153319800	Weak transcription	Psoas Muscle	Psoas
37	chr2:153306200-153320200	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:153306800-153309800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:153307000-153308800	Strong transcription	NHEK	skin
40	chr2:153307000-153310200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr2:153307200-153308600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:153307200-153308800	Weak transcription	Fetal Brain Male	brain
43	chr2:153307200-153309400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr2:153307400-153309200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:153307400-153309200	Weak transcription	Pancreas	Pancrea
46	chr2:153307600-153313200	Enhancers	HepG2	liver
47	chr2:153307800-153308800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr2:153307800-153309600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:153307800-153310600	Enhancers	Fetal Brain Female	brain
50	chr2:153308000-153308600	Enhancers	HUES64 Cell Line	embryonic stem cell

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