Variant report

Variant	rs11129967
Chromosome Location	chr3:42707281-42707282
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:42703465..42708475-chr3:42709684..42714527,5	MCF-7	breast:
2	chr3:42693048..42698390-chr3:42704198..42708211,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114853	Chromatin interaction
ENSG00000230084	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs4371488	0.87[ASW][hapmap];0.82[TSI][hapmap]
rs9647353	0.82[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1818302	chr3:42688867-42709062	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv876731	chr3:42690285-42711655	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42697400-42708800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:42697400-42708800	Weak transcription	Fetal Lung	lung
3	chr3:42697600-42708000	Weak transcription	Colonic Mucosa	Colon
4	chr3:42697600-42709800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr3:42697800-42707600	Strong transcription	Fetal Intestine Small	intestine
6	chr3:42697800-42707800	Weak transcription	Psoas Muscle	Psoas
7	chr3:42697800-42709400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:42698200-42708000	Weak transcription	HSMM	muscle
9	chr3:42698200-42708400	Weak transcription	HUVEC	blood vessel
10	chr3:42700800-42707600	Weak transcription	Adipose Nuclei	Adipose
11	chr3:42701400-42708800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr3:42701600-42709000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:42701600-42709000	Weak transcription	Aorta	Aorta
14	chr3:42701800-42709200	Weak transcription	NHDF-Ad	bronchial
15	chr3:42702000-42707600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr3:42702000-42708000	Weak transcription	Right Atrium	heart
17	chr3:42702000-42709000	Weak transcription	Osteobl	bone
18	chr3:42702200-42709200	Weak transcription	Gastric	stomach
19	chr3:42702400-42707400	Weak transcription	Fetal Intestine Large	intestine
20	chr3:42702600-42709000	Weak transcription	Brain Angular Gyrus	brain
21	chr3:42703400-42707400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:42703400-42707800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr3:42703600-42708000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:42703800-42707800	Weak transcription	HSMMtube	muscle
25	chr3:42703800-42709200	Weak transcription	Placenta	Placenta
26	chr3:42704400-42708200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:42704800-42707800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:42705400-42707800	Weak transcription	Brain Substantia Nigra	brain
29	chr3:42705400-42708000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr3:42705400-42709400	Weak transcription	Brain Germinal Matrix	brain
31	chr3:42705600-42709200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:42705600-42709200	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr3:42705600-42709200	Weak transcription	Fetal Brain Female	brain
34	chr3:42705600-42709400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:42705800-42709000	Weak transcription	Lung	lung
36	chr3:42706000-42707400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr3:42706200-42707600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr3:42706200-42707600	Enhancers	Stomach Smooth Muscle	stomach
39	chr3:42706200-42708000	Weak transcription	Ovary	ovary
40	chr3:42706200-42710600	Enhancers	Fetal Muscle Leg	muscle
41	chr3:42706400-42707600	Weak transcription	Fetal Stomach	stomach
42	chr3:42706400-42707600	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr3:42706400-42708200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr3:42706400-42709000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:42706600-42708400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:42706600-42708800	Weak transcription	NHLF	lung
47	chr3:42706600-42709800	Enhancers	Esophagus	oesophagus
48	chr3:42706600-42710000	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr3:42706800-42708000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr3:42706800-42708800	Weak transcription	Placenta Amnion	Placenta Amnion

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