Variant report

Variant	rs530318711
Chromosome Location	chr2:36733051-36733052
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	chr2:36730697..36732270-chr2:36732396..36733939,2	MCF-7	breast:

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

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833803	chr2:36589065-36745779	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv3514439	chr2:36731361-36734052	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2536024	chr2:36731660-36733406	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36704800-36736200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:36705000-36743200	Weak transcription	Brain Germinal Matrix	brain
3	chr2:36707000-36740600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:36708600-36739000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:36709200-36739000	Weak transcription	Colonic Mucosa	Colon
6	chr2:36710000-36743400	Weak transcription	Primary T cells from cord blood	blood
7	chr2:36711400-36739200	Weak transcription	Primary B cells from cord blood	blood
8	chr2:36713000-36733200	Weak transcription	Pancreas	Pancrea
9	chr2:36713600-36739200	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:36713800-36733200	Weak transcription	Stomach Mucosa	stomach
11	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:36717400-36744400	Weak transcription	Brain Angular Gyrus	brain
13	chr2:36720000-36734400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:36720000-36760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:36720400-36739200	Weak transcription	Fetal Heart	heart
16	chr2:36720800-36739200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:36721400-36737200	Strong transcription	HSMM	muscle
18	chr2:36721800-36746000	Strong transcription	HUVEC	blood vessel
19	chr2:36722200-36734800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:36722400-36739800	Weak transcription	Brain Hippocampus Middle	brain
21	chr2:36722600-36752400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:36724000-36740600	Weak transcription	Psoas Muscle	Psoas
23	chr2:36725000-36734000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:36725200-36739200	Strong transcription	NH-A	brain
25	chr2:36725200-36756800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:36725400-36734800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:36725600-36734000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:36726200-36733800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr2:36726400-36733800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:36726400-36734400	Strong transcription	Adipose Nuclei	Adipose
31	chr2:36726800-36751800	Strong transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:36727000-36734600	Genic enhancers	HepG2	liver
33	chr2:36727000-36739200	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:36727000-36739600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:36727200-36739200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr2:36727400-36733200	Weak transcription	Gastric	stomach
37	chr2:36727400-36738400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:36727400-36757200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:36727600-36737000	Weak transcription	Esophagus	oesophagus
40	chr2:36727600-36739200	Weak transcription	Fetal Brain Female	brain
41	chr2:36727600-36739200	Weak transcription	Fetal Kidney	kidney
42	chr2:36727600-36739400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:36727600-36739400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr2:36727600-36739400	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:36727600-36739800	Weak transcription	Right Ventricle	heart
46	chr2:36727600-36740800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:36727600-36743600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr2:36728000-36733200	Weak transcription	Brain Anterior Caudate	brain
49	chr2:36728000-36737600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:36728000-36738800	Weak transcription	Rectal Smooth Muscle	rectum

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