Variant report

Variant	rs2057596
Chromosome Location	chr1:59363982-59363983
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:59242448..59252747-chr1:59356992..59375072,48	K562	blood:
2	chr1:59363087..59366662-chr1:59367277..59371776,8	K562	blood:
3	chr1:59242448..59251438-chr1:59358057..59375559,39	K562	blood:
4	chr1:59316456..59319340-chr1:59363706..59366262,2	K562	blood:

Variant related genes	Relation type
ENSG00000234807	Chromatin interaction
ENSG00000231740	Chromatin interaction
ENSG00000177606	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10493253	0.80[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes]
rs10789072	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11207319	0.87[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap]
rs11207321	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11207322	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11207323	0.86[JPT][hapmap];0.85[AMR][1000 genomes]
rs11207325	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11207326	0.80[CEU][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12117564	0.86[JPT][hapmap];0.85[AMR][1000 genomes]
rs12122077	0.80[CEU][hapmap];0.87[JPT][hapmap]
rs12142126	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12409909	0.83[AMR][1000 genomes]
rs1536159	0.92[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17118379	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2716105	0.83[JPT][hapmap]
rs41287666	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6587841	0.85[AMR][1000 genomes]
rs6658104	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6661505	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6677752	0.83[CEU][hapmap]
rs6681632	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6697107	0.80[CEU][hapmap];0.87[JPT][hapmap];0.86[AMR][1000 genomes]
rs7528731	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005354	chr1:59283572-59535812	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv829959	chr1:59340330-59503085	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:59356200-59368600	Weak transcription	Esophagus	oesophagus
2	chr1:59357800-59364200	Enhancers	K562	blood
3	chr1:59358200-59367200	Enhancers	HUVEC	blood vessel
4	chr1:59358400-59368600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr1:59358600-59367000	Enhancers	Adipose Nuclei	Adipose
6	chr1:59358800-59365800	Enhancers	Lung	lung
7	chr1:59358800-59367000	Enhancers	Fetal Muscle Leg	muscle
8	chr1:59359000-59365800	Enhancers	Left Ventricle	heart
9	chr1:59359000-59366400	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:59359000-59367000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr1:59359000-59367200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:59359000-59368600	Enhancers	Fetal Intestine Small	intestine
13	chr1:59359000-59368800	Enhancers	Fetal Intestine Large	intestine
14	chr1:59359200-59366400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:59359600-59365600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:59359600-59365600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:59360000-59367000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:59360600-59364400	Enhancers	HepG2	liver
19	chr1:59360600-59365400	Enhancers	Spleen	Spleen
20	chr1:59360600-59366600	Enhancers	Colonic Mucosa	Colon
21	chr1:59360800-59364800	Enhancers	Right Atrium	heart
22	chr1:59360800-59365000	Enhancers	Fetal Heart	heart
23	chr1:59360800-59365000	Enhancers	Placenta	Placenta
24	chr1:59361000-59366600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:59361200-59364400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr1:59361200-59367000	Enhancers	Ovary	ovary
27	chr1:59361200-59368800	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:59361600-59367000	Enhancers	Fetal Lung	lung
29	chr1:59361600-59368400	Weak transcription	GM12878-XiMat	blood
30	chr1:59361800-59364800	Weak transcription	Gastric	stomach
31	chr1:59361800-59368800	Weak transcription	HMEC	breast
32	chr1:59362000-59364600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:59362000-59366000	Weak transcription	Osteobl	bone
34	chr1:59362200-59366600	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr1:59362400-59364400	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:59362400-59364600	Weak transcription	Liver	Liver
37	chr1:59362400-59368600	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr1:59362400-59368600	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:59362400-59368800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr1:59362400-59369000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:59362600-59364600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:59362600-59364800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:59362600-59368600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:59362600-59368800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr1:59362600-59368800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:59362800-59364400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:59362800-59364400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:59362800-59364400	Weak transcription	Small Intestine	intestine
49	chr1:59362800-59364600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:59362800-59364600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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