Variant report

Variant	rs548647212
Chromosome Location	chr2:36726626-36726627
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	chr2:36726450..36728384-chr2:36733082..36736034,2	MCF-7	breast:

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

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv3395718	chr2:36725359-36730447	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv3516474	chr2:36725388-36730472	Genic enhancers Strong transcription Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3516475	chr2:36725403-36730432	Enhancers Weak transcription Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:95 , 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	chr2:36709200-36726800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:36709200-36727200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:36709200-36739000	Weak transcription	Colonic Mucosa	Colon
8	chr2:36709400-36726800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:36709400-36726800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr2:36710000-36743400	Weak transcription	Primary T cells from cord blood	blood
11	chr2:36711400-36739200	Weak transcription	Primary B cells from cord blood	blood
12	chr2:36711600-36726800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:36712600-36727000	Weak transcription	Right Ventricle	heart
14	chr2:36712800-36726800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr2:36713000-36733200	Weak transcription	Pancreas	Pancrea
16	chr2:36713600-36739200	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:36713800-36733200	Weak transcription	Stomach Mucosa	stomach
18	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:36717200-36733000	Genic enhancers	A549	lung
20	chr2:36717400-36744400	Weak transcription	Brain Angular Gyrus	brain
21	chr2:36717600-36727000	Strong transcription	HepG2	liver
22	chr2:36720000-36734400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:36720000-36760600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:36720400-36739200	Weak transcription	Fetal Heart	heart
25	chr2:36720800-36726800	Weak transcription	Brain Anterior Caudate	brain
26	chr2:36720800-36728200	Strong transcription	Osteobl	bone
27	chr2:36720800-36728800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:36720800-36739200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:36721400-36737200	Strong transcription	HSMM	muscle
30	chr2:36721600-36729600	Strong transcription	NHEK	skin
31	chr2:36721800-36746000	Strong transcription	HUVEC	blood vessel
32	chr2:36722200-36734800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:36722400-36739800	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:36722600-36752400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:36723600-36727000	Strong transcription	NHDF-Ad	bronchial
36	chr2:36723800-36727200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:36724000-36740600	Weak transcription	Psoas Muscle	Psoas
38	chr2:36724400-36731400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:36725000-36734000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:36725200-36726800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:36725200-36727600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:36725200-36729800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:36725200-36731800	Strong transcription	HMEC	breast
44	chr2:36725200-36739200	Strong transcription	NH-A	brain
45	chr2:36725200-36756800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:36725400-36730000	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr2:36725400-36731400	Strong transcription	HSMMtube	muscle
48	chr2:36725400-36734800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:36725600-36728000	Strong transcription	Rectal Smooth Muscle	rectum
50	chr2:36725600-36729200	Strong transcription	Muscle Satellite Cultured Cells	--

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