Variant report

Variant	rs35183885
Chromosome Location	chr2:55457382-55457383
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:55457278-55458126	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RPS27A	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10496038	0.89[CEU][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap]
rs1134722	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11684805	0.85[TSI][hapmap]
rs11686766	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs11686912	0.89[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[YRI][hapmap];0.86[EUR][1000 genomes]
rs11687876	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12619486	1.00[MEX][hapmap]
rs12989854	0.86[EUR][1000 genomes]
rs12995548	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs13000786	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13003020	1.00[CEU][hapmap];0.82[YRI][hapmap];0.97[EUR][1000 genomes]
rs13012567	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13014752	0.89[AFR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13017468	1.00[CEU][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13032294	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[YRI][hapmap];0.83[EUR][1000 genomes]
rs2028139	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34447956	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35141050	0.86[EUR][1000 genomes]
rs35227659	0.86[EUR][1000 genomes]
rs35700883	0.86[EUR][1000 genomes]
rs36121000	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4318424	0.89[CEU][hapmap];0.83[TSI][hapmap];0.86[EUR][1000 genomes]
rs4627623	0.84[AMR][1000 genomes]
rs6742306	0.89[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.82[YRI][hapmap];0.94[EUR][1000 genomes]
rs6743339	0.89[EUR][1000 genomes]
rs6747466	0.89[CEU][hapmap];0.94[EUR][1000 genomes]
rs71414544	0.86[EUR][1000 genomes]
rs71414545	0.86[EUR][1000 genomes]
rs71414546	0.86[EUR][1000 genomes]
rs71414547	0.86[EUR][1000 genomes]
rs71414548	0.86[EUR][1000 genomes]
rs71414549	0.84[EUR][1000 genomes]
rs71414556	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71414557	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7595814	1.00[MEX][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	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3348896	chr2:55429540-55498552	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55451000-55457600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:55451000-55457600	Weak transcription	HMEC	breast
3	chr2:55451000-55457800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:55451000-55457800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:55451000-55458000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:55451000-55458000	Weak transcription	Osteobl	bone
7	chr2:55451000-55458400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:55451000-55458400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:55451000-55458400	Weak transcription	Aorta	Aorta
10	chr2:55451000-55458400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:55451000-55458400	Weak transcription	Fetal Brain Female	brain
12	chr2:55451000-55458600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:55451000-55458600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr2:55451000-55458800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:55451000-55458800	Weak transcription	Esophagus	oesophagus
16	chr2:55451000-55458800	Weak transcription	Stomach Mucosa	stomach
17	chr2:55451200-55458400	Weak transcription	Fetal Kidney	kidney
18	chr2:55451200-55458400	Weak transcription	Fetal Lung	lung
19	chr2:55451400-55458400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr2:55451400-55458400	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:55451400-55458600	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:55451400-55458800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:55451600-55457800	Weak transcription	Placenta	Placenta
24	chr2:55451800-55458400	Weak transcription	Brain Angular Gyrus	brain
25	chr2:55451800-55458600	Weak transcription	Fetal Intestine Small	intestine
26	chr2:55452200-55458600	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:55452400-55458400	Weak transcription	Fetal Stomach	stomach
28	chr2:55452600-55457600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr2:55452600-55458400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:55452600-55458400	Weak transcription	Brain Germinal Matrix	brain
31	chr2:55452800-55458400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr2:55453000-55457800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:55453000-55458400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr2:55453000-55458400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:55453000-55458600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:55453000-55458600	Weak transcription	Lung	lung
37	chr2:55453000-55458600	Weak transcription	Pancreas	Pancrea
38	chr2:55453000-55458800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:55453200-55458400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr2:55455000-55458400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr2:55455000-55458400	Enhancers	HepG2	liver
42	chr2:55455400-55457800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:55455400-55458400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:55455600-55458400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:55455600-55458400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:55455600-55458600	Weak transcription	Adipose Nuclei	Adipose
47	chr2:55455600-55458600	Weak transcription	Brain Substantia Nigra	brain
48	chr2:55455800-55457600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:55455800-55457600	Enhancers	Dnd41	blood
50	chr2:55455800-55457800	Weak transcription	NHEK	skin

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