Variant report

Variant	rs2611145
Chromosome Location	chr11:34283861-34283862
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34281972..34284178-chr11:34286435..34290431,3	K562	blood:
2	chr11:34265214..34267176-chr11:34283077..34285328,3	MCF-7	breast:
3	chr11:34283686..34286562-chr11:34377473..34379594,2	MCF-7	breast:
4	chr11:34283475..34285529-chr11:34358260..34360841,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166016	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10768057	0.82[YRI][hapmap]
rs745281	0.82[YRI][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2611145	DEPDC7	cis	cerebellum	SCAN
rs2611145	EHF	cis	cerebellum	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34273200-34284400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:34273200-34284600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:34274000-34284600	Weak transcription	NHEK	skin
4	chr11:34274000-34287400	Weak transcription	Primary T cells from cord blood	blood
5	chr11:34274000-34290400	Weak transcription	HSMMtube	muscle
6	chr11:34274200-34287600	Weak transcription	HSMM	muscle
7	chr11:34274200-34288800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:34274600-34285000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:34274800-34284400	Weak transcription	Right Ventricle	heart
10	chr11:34276200-34284200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:34278400-34284000	Weak transcription	Fetal Heart	heart
12	chr11:34280800-34285800	Enhancers	Brain Germinal Matrix	brain
13	chr11:34281200-34284400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:34281200-34284400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:34281200-34284600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr11:34281800-34284400	Enhancers	Brain Hippocampus Middle	brain
17	chr11:34282400-34284000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr11:34282400-34287800	Weak transcription	Fetal Brain Female	brain
19	chr11:34282800-34285600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:34282800-34287000	Enhancers	Fetal Lung	lung
21	chr11:34282800-34288000	Enhancers	Brain Cingulate Gyrus	brain
22	chr11:34282800-34291400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:34283000-34288000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:34283000-34288600	Enhancers	HepG2	liver
25	chr11:34283200-34285000	Enhancers	A549	lung
26	chr11:34283200-34285800	Enhancers	Fetal Muscle Leg	muscle
27	chr11:34283200-34287200	Enhancers	Brain Angular Gyrus	brain
28	chr11:34283200-34289000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr11:34283200-34290200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr11:34283400-34284000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr11:34283400-34284200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr11:34283400-34285000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr11:34283400-34286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:34283400-34286200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:34283400-34286400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:34283400-34286800	Enhancers	Psoas Muscle	Psoas
37	chr11:34283400-34287000	Enhancers	Left Ventricle	heart
38	chr11:34283400-34288000	Enhancers	HMEC	breast
39	chr11:34283400-34289000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:34283400-34289000	Enhancers	Fetal Muscle Trunk	muscle
41	chr11:34283400-34289000	Enhancers	Right Atrium	heart
42	chr11:34283600-34284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr11:34283600-34284400	Flanking Active TSS	Brain Substantia Nigra	brain
44	chr11:34283600-34284400	Weak transcription	Pancreas	Pancrea
45	chr11:34283600-34284600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:34283600-34289200	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr11:34283600-34291800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:34283800-34285000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:34283800-34285400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:34283800-34285600	Enhancers	Liver	Liver

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