Variant report

Variant	rs57407838
Chromosome Location	chr2:9720917-9720918
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	chr2:9720059..9721952-chr2:9769612..9771388,2	K562	blood:
2	chr2:9720178..9722999-chr2:9727333..9729197,2	K562	blood:

Variant related genes	Relation type
ENSG00000134308	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10495571	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495572	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10495573	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11676903	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692112	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11694314	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867083	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362734	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362839	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17362902	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17453675	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17453724	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17453752	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55883249	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56372340	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57234614	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60319753	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60726087	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119391	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119392	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119393	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119422	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119423	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62119428	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62119429	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62119431	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62119432	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580915	chr2:9308148-9844178	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9696800-9767600	Weak transcription	Gastric	stomach
2	chr2:9697200-9723800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:9697400-9725000	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:9697400-9729800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:9697800-9723600	Weak transcription	Primary B cells from cord blood	blood
6	chr2:9699600-9725600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:9705400-9723600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:9705400-9723600	Weak transcription	Colonic Mucosa	Colon
9	chr2:9706000-9722800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:9706000-9722800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:9706000-9733600	Weak transcription	Pancreas	Pancrea
12	chr2:9706200-9722800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:9706200-9727800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:9706200-9728000	Weak transcription	Psoas Muscle	Psoas
15	chr2:9706400-9723600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr2:9706400-9725000	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:9706400-9734200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:9710800-9723800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:9713400-9723400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:9713600-9722800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:9713600-9723000	Weak transcription	HSMMtube	muscle
22	chr2:9713800-9722000	Weak transcription	NHEK	skin
23	chr2:9713800-9723400	Weak transcription	Hela-S3	cervix
24	chr2:9713800-9723400	Weak transcription	HSMM	muscle
25	chr2:9714000-9723600	Weak transcription	NHLF	lung
26	chr2:9714200-9723600	Weak transcription	Brain Substantia Nigra	brain
27	chr2:9714200-9725200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:9714400-9723400	Weak transcription	Placenta	Placenta
29	chr2:9714400-9723400	Weak transcription	HMEC	breast
30	chr2:9714600-9721200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:9714600-9723400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:9714800-9723800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:9715000-9722400	Weak transcription	HUVEC	blood vessel
34	chr2:9715000-9723000	Weak transcription	Osteobl	bone
35	chr2:9715000-9723400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr2:9715000-9723600	Weak transcription	GM12878-XiMat	blood
37	chr2:9715000-9723600	Weak transcription	NH-A	brain
38	chr2:9715000-9735200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr2:9715800-9723600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr2:9715800-9725600	Weak transcription	Left Ventricle	heart
41	chr2:9716000-9730000	Weak transcription	Right Ventricle	heart
42	chr2:9716400-9723600	Weak transcription	Primary T cells from cord blood	blood
43	chr2:9717000-9723600	Weak transcription	Brain Germinal Matrix	brain
44	chr2:9717200-9725200	Weak transcription	Thymus	Thymus
45	chr2:9717600-9723600	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:9717600-9723600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:9717600-9723600	Weak transcription	Fetal Lung	lung
48	chr2:9717600-9734800	Weak transcription	Spleen	Spleen
49	chr2:9718000-9722400	Weak transcription	Fetal Intestine Small	intestine
50	chr2:9718000-9722800	Weak transcription	Fetal Intestine Large	intestine

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