Variant report

Variant	rs2755168
Chromosome Location	chr11:34289241-34289242
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	chr11:34281972..34284178-chr11:34286435..34290431,3	K562	blood:
2	chr11:34286604..34290357-chr11:34293722..34296590,3	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11032589	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032595	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11032599	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364526	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16925360	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2611107	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2611111	0.80[YRI][hapmap]
rs2755161	0.81[YRI][hapmap]
rs2755164	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2755169	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2957489	1.00[CHD][hapmap]
rs4755364	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4755365	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756111	1.00[CHD][hapmap]
rs4756122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756123	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756124	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4756126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56709002	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs749322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933213	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7933607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv897206	chr11:34253421-34337564	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2755168	ELF5	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34274000-34290400	Weak transcription	HSMMtube	muscle
2	chr11:34282800-34291400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:34283200-34290200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr11:34283600-34291800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr11:34285400-34290200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:34285400-34296400	Weak transcription	Gastric	stomach
7	chr11:34285400-34296400	Weak transcription	Right Ventricle	heart
8	chr11:34285600-34293200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr11:34285600-34296000	Weak transcription	Fetal Heart	heart
10	chr11:34285600-34296200	Weak transcription	Stomach Mucosa	stomach
11	chr11:34285600-34299800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:34286000-34290400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:34286000-34292800	Weak transcription	Pancreas	Pancrea
14	chr11:34286200-34293400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:34286200-34295800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:34286400-34292400	Enhancers	Primary hematopoietic stem cells	blood
17	chr11:34286600-34291600	Enhancers	Fetal Thymus	thymus
18	chr11:34286800-34296200	Weak transcription	Psoas Muscle	Psoas
19	chr11:34287400-34289400	Enhancers	Brain Germinal Matrix	brain
20	chr11:34287400-34289400	Enhancers	Fetal Lung	lung
21	chr11:34287600-34289400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:34287600-34289400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr11:34287600-34289400	Enhancers	Fetal Brain Male	brain
24	chr11:34287600-34289400	Enhancers	Fetal Muscle Leg	muscle
25	chr11:34287600-34289400	Enhancers	Hela-S3	cervix
26	chr11:34287800-34289400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:34287800-34289400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:34287800-34289400	Enhancers	A549	lung
29	chr11:34288000-34289600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr11:34288000-34291800	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr11:34288400-34289400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr11:34288400-34289400	Enhancers	Brain Cingulate Gyrus	brain
33	chr11:34288400-34289600	Enhancers	Brain Hippocampus Middle	brain
34	chr11:34288600-34291400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr11:34288800-34290800	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr11:34288800-34291200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:34288800-34295800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:34289000-34289800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:34289000-34290000	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:34289000-34290000	Weak transcription	Placenta	Placenta
41	chr11:34289000-34290000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:34289000-34290200	Weak transcription	HSMM	muscle
43	chr11:34289000-34290400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:34289000-34291000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr11:34289000-34291200	Enhancers	HepG2	liver
46	chr11:34289000-34292400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:34289000-34292600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:34289000-34292800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:34289000-34294800	Weak transcription	Right Atrium	heart
50	chr11:34289000-34295800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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