Variant report

Variant	rs1052529
Chromosome Location	chr2:113496131-113496132
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113491290..113493368-chr2:113494411..113496403,2	MCF-7	breast:
2	chr2:113493806..113496306-chr2:113496451..113497981,2	K562	blood:
3	chr2:113494174..113497149-chr2:113498169..113501169,3	K562	blood:
4	chr2:113494683..113496811-chr2:113506121..113508526,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17040317	1.00[AFR][1000 genomes]
rs17042312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042329	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17042330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55681502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55832935	1.00[AFR][1000 genomes]
rs57802598	1.00[AFR][1000 genomes]
rs58559275	1.00[AFR][1000 genomes]
rs58965946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59143214	1.00[AFR][1000 genomes]
rs59509339	0.96[AFR][1000 genomes]
rs59512522	0.96[AFR][1000 genomes]
rs60152550	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60396978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60954436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61567781	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950385	1.00[AFR][1000 genomes]
rs72950389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950400	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73955274	1.00[AFR][1000 genomes];1.00[AMR][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:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113484200-113497200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:113484400-113496400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
5	chr2:113484800-113496200	Weak transcription	NHDF-Ad	bronchial
6	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
7	chr2:113486600-113496200	Weak transcription	Placenta	Placenta
8	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:113488200-113507400	Weak transcription	Spleen	Spleen
10	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:113491400-113498800	Weak transcription	Fetal Kidney	kidney
12	chr2:113491800-113507200	Weak transcription	Fetal Brain Female	brain
13	chr2:113492000-113497600	Weak transcription	K562	blood
14	chr2:113492200-113497600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
16	chr2:113492400-113497400	Weak transcription	NHLF	lung
17	chr2:113492400-113498000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:113492400-113498000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:113492400-113498000	Weak transcription	Fetal Lung	lung
20	chr2:113492400-113507600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:113494000-113496800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:113494200-113506400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:113494200-113507400	Strong transcription	Fetal Thymus	thymus
24	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:113494400-113496200	Enhancers	Stomach Mucosa	stomach
26	chr2:113494400-113496400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:113494400-113498000	Strong transcription	NHEK	skin
28	chr2:113494400-113500000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr2:113494400-113505800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:113494600-113496200	Genic enhancers	A549	lung
32	chr2:113494600-113498000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:113494600-113502400	Strong transcription	Fetal Stomach	stomach
34	chr2:113494600-113506400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:113494800-113496400	Enhancers	Fetal Intestine Large	intestine
36	chr2:113494800-113496600	Enhancers	Fetal Intestine Small	intestine
37	chr2:113494800-113505400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:113494800-113506000	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:113494800-113506200	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:113494800-113507000	Strong transcription	Dnd41	blood
41	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:113495000-113497400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:113495000-113500000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:113495200-113496400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:113495200-113500400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:113495200-113500600	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:113495200-113504200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:113495400-113497400	Weak transcription	Brain Germinal Matrix	brain
49	chr2:113495400-113499200	Strong transcription	Fetal Muscle Leg	muscle
50	chr2:113495600-113498200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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