Variant report

Variant	rs11718972
Chromosome Location	chr3:135689162-135689163
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	chr3:135683460..135687077-chr3:135688475..135690528,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000073711	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs9866627	1.00[CHD][hapmap]
rs9871437	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460860	chr3:135107678-135769006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv591829	chr3:135107678-135769006	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv829732	chr3:135561706-135756840	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135685400-135692600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:135685600-135693800	Weak transcription	Gastric	stomach
3	chr3:135685800-135693800	Weak transcription	Lung	lung
4	chr3:135686200-135689400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:135686400-135690000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:135686600-135690200	Enhancers	NHEK	skin
7	chr3:135686600-135690400	Enhancers	HMEC	breast
8	chr3:135686600-135693400	Weak transcription	Right Ventricle	heart
9	chr3:135686600-135694400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:135686800-135689400	Weak transcription	Aorta	Aorta
11	chr3:135686800-135689400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:135686800-135692600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:135687000-135689200	Weak transcription	HSMMtube	muscle
14	chr3:135687000-135690800	Enhancers	NHDF-Ad	bronchial
15	chr3:135687000-135691000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr3:135687000-135691200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:135687000-135691800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr3:135687000-135692400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:135687000-135692800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:135687000-135692800	Weak transcription	Right Atrium	heart
21	chr3:135687000-135693200	Weak transcription	Fetal Lung	lung
22	chr3:135687000-135693200	Weak transcription	Fetal Stomach	stomach
23	chr3:135687200-135689400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:135687200-135690200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:135687200-135691400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:135687200-135691600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:135687200-135692600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr3:135687400-135689400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr3:135687400-135689400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr3:135687400-135690000	Enhancers	NHLF	lung
31	chr3:135687400-135690400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:135687400-135692800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr3:135687400-135692800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:135687400-135692800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr3:135687400-135693400	Weak transcription	Left Ventricle	heart
36	chr3:135687600-135689200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr3:135687600-135689400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:135687600-135689600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:135687600-135690400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:135687600-135690600	Weak transcription	Ovary	ovary
41	chr3:135687600-135690600	Weak transcription	Pancreas	Pancrea
42	chr3:135687600-135691200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:135687600-135691600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr3:135687600-135691800	Weak transcription	Stomach Mucosa	stomach
45	chr3:135687600-135694000	Enhancers	Colon Smooth Muscle	Colon
46	chr3:135687600-135700400	Weak transcription	Fetal Intestine Small	intestine
47	chr3:135687800-135692600	Weak transcription	Fetal Heart	heart
48	chr3:135688000-135694200	Enhancers	Brain Hippocampus Middle	brain
49	chr3:135688200-135689800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr3:135688200-135690000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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