Variant report

Variant	rs6542088
Chromosome Location	chr2:113503830-113503831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:113503316..113505733-chr2:113515088..113517638,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10187863	1.00[YRI][hapmap]
rs10209160	1.00[ASW][hapmap];1.00[CEU][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1040191	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17042341	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17042342	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17042344	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2048874	1.00[LWK][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs2138604	0.86[AFR][1000 genomes]
rs4260249	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6542089	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6731822	1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs7559917	0.86[AFR][1000 genomes]

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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
3	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
4	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:113488200-113507400	Weak transcription	Spleen	Spleen
6	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:113491800-113507200	Weak transcription	Fetal Brain Female	brain
8	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
9	chr2:113492400-113507600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:113494200-113506400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:113494200-113507400	Strong transcription	Fetal Thymus	thymus
12	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:113494400-113505800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:113494600-113506400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:113494800-113505400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr2:113494800-113506000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:113494800-113506200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr2:113494800-113507000	Strong transcription	Dnd41	blood
20	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:113495200-113504200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:113495800-113504200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr2:113495800-113505400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr2:113495800-113505400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:113495800-113505600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:113495800-113521400	Weak transcription	Small Intestine	intestine
27	chr2:113496000-113521200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:113496000-113521200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:113496200-113507400	Weak transcription	Primary T cells from cord blood	blood
30	chr2:113496200-113508800	Strong transcription	A549	lung
31	chr2:113496800-113509800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:113496800-113520800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:113498000-113507400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:113498600-113507600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:113498800-113513800	Weak transcription	Fetal Lung	lung
36	chr2:113499000-113507600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:113499000-113511400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:113499000-113511400	Weak transcription	Gastric	stomach
39	chr2:113499200-113504600	Weak transcription	Fetal Intestine Small	intestine
40	chr2:113499200-113505600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:113499200-113506200	Strong transcription	HMEC	breast
42	chr2:113499200-113507400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:113499200-113507400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:113499200-113507400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:113499200-113507400	Weak transcription	Brain Germinal Matrix	brain
46	chr2:113499200-113507600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:113499200-113508800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:113499200-113509400	Weak transcription	Fetal Kidney	kidney
49	chr2:113499200-113512000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:113499400-113504800	Weak transcription	Placenta	Placenta

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