Variant report

Variant	rs528706019
Chromosome Location	chr2:37347354-37347355
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:37342656..37344235-chr2:37346299..37347837,2	MCF-7	breast:
2	chr2:37311730..37314606-chr2:37345143..37347572,2	K562	blood:
3	chr2:37336683..37339266-chr2:37345698..37347982,2	K562	blood:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv511779	chr2:37346918-37349043	Strong transcription Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:37313400-37361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:37315600-37367000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:37319200-37377200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr2:37320600-37368000	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:37321600-37348600	Weak transcription	Colonic Mucosa	Colon
7	chr2:37322400-37352200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:37327000-37349200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:37328200-37349000	Weak transcription	Aorta	Aorta
10	chr2:37331200-37348800	Weak transcription	K562	blood
11	chr2:37331600-37347400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:37332600-37375200	Strong transcription	Liver	Liver
13	chr2:37332800-37351200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:37333200-37379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:37333400-37362400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:37333400-37366400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr2:37335600-37370400	Weak transcription	Fetal Heart	heart
18	chr2:37336400-37383200	Weak transcription	Psoas Muscle	Psoas
19	chr2:37336600-37352600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr2:37336800-37349000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr2:37336800-37360000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:37337200-37353000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr2:37337400-37349000	Weak transcription	HSMMtube	muscle
24	chr2:37338400-37349000	Weak transcription	HMEC	breast
25	chr2:37339200-37347600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:37339800-37376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:37340200-37348800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr2:37340200-37350600	Weak transcription	Brain Angular Gyrus	brain
29	chr2:37341200-37352400	Weak transcription	NH-A	brain
30	chr2:37341600-37347400	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr2:37341600-37369000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:37341800-37347400	Strong transcription	Fetal Thymus	thymus
33	chr2:37341800-37352200	Strong transcription	Fetal Muscle Leg	muscle
34	chr2:37342200-37367800	Strong transcription	Fetal Stomach	stomach
35	chr2:37342400-37357000	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr2:37342400-37376400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:37342400-37376400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:37342400-37376600	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:37342600-37357800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:37343800-37349200	Weak transcription	HUVEC	blood vessel
41	chr2:37344000-37348600	Weak transcription	Fetal Kidney	kidney
42	chr2:37344000-37349000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:37344000-37352200	Weak transcription	Colon Smooth Muscle	Colon
44	chr2:37344200-37350600	Weak transcription	Rectal Smooth Muscle	rectum
45	chr2:37344800-37349000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr2:37345000-37349000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:37345200-37348800	Weak transcription	Gastric	stomach
48	chr2:37345200-37349000	Weak transcription	Brain Hippocampus Middle	brain
49	chr2:37345200-37349600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr2:37346200-37349000	Weak transcription	Right Ventricle	heart

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