Variant report

Variant	rs35691553
Chromosome Location	chr2:113496452-113496453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113494174..113497149-chr2:113498169..113501169,3	K562	blood:
2	chr2:113494683..113496811-chr2:113506121..113508526,2	K562	blood:
3	chr2:113493806..113496306-chr2:113496451..113497981,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2138604	1.00[AMR][1000 genomes]
rs3783585	1.00[AMR][1000 genomes]
rs56770888	1.00[AMR][1000 genomes]
rs6705236	1.00[AMR][1000 genomes]
rs7559917	1.00[AMR][1000 genomes]
rs908550	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:78 , 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	chr2:113484400-113507400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:113484600-113507600	Weak transcription	Colonic Mucosa	Colon
4	chr2:113484800-113507600	Weak transcription	Primary B cells from cord blood	blood
5	chr2:113486600-113511600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr2:113488200-113507400	Weak transcription	Spleen	Spleen
7	chr2:113491000-113520800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:113491400-113498800	Weak transcription	Fetal Kidney	kidney
9	chr2:113491800-113507200	Weak transcription	Fetal Brain Female	brain
10	chr2:113492000-113497600	Weak transcription	K562	blood
11	chr2:113492200-113497600	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:113492200-113512000	Weak transcription	Fetal Heart	heart
13	chr2:113492400-113497400	Weak transcription	NHLF	lung
14	chr2:113492400-113498000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr2:113492400-113498000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:113492400-113498000	Weak transcription	Fetal Lung	lung
17	chr2:113492400-113507600	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr2:113494000-113496800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr2:113494200-113506400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:113494200-113507400	Strong transcription	Fetal Thymus	thymus
21	chr2:113494200-113519600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:113494400-113498000	Strong transcription	NHEK	skin
23	chr2:113494400-113500000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr2:113494400-113505800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:113494400-113521000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr2:113494600-113498000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:113494600-113502400	Strong transcription	Fetal Stomach	stomach
28	chr2:113494600-113506400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:113494800-113496600	Enhancers	Fetal Intestine Small	intestine
30	chr2:113494800-113505400	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:113494800-113506000	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr2:113494800-113506200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr2:113494800-113507000	Strong transcription	Dnd41	blood
34	chr2:113494800-113520000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:113495000-113497400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:113495000-113500000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:113495200-113500400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:113495200-113500600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:113495200-113504200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:113495400-113497400	Weak transcription	Brain Germinal Matrix	brain
41	chr2:113495400-113499200	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:113495600-113498200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:113495600-113499800	Weak transcription	Hela-S3	cervix
44	chr2:113495600-113500400	Strong transcription	H1 Cell Line	embryonic stem cell
45	chr2:113495600-113500400	Strong transcription	HSMM	muscle
46	chr2:113495600-113502400	Strong transcription	Thymus	Thymus
47	chr2:113495800-113496800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:113495800-113497400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:113495800-113497800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:113495800-113499000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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