Variant report

Variant	rs550575466
Chromosome Location	chr2:36725975-36725976
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr2:36708800-36726000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:36709200-36726800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr2:36709200-36727200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:36709200-36739000	Weak transcription	Colonic Mucosa	Colon
9	chr2:36709400-36726600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:36709400-36726800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:36709400-36726800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:36710000-36743400	Weak transcription	Primary T cells from cord blood	blood
13	chr2:36710400-36726600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr2:36711200-36726600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:36711400-36726400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:36711400-36726400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:36711400-36726600	Weak transcription	Esophagus	oesophagus
18	chr2:36711400-36739200	Weak transcription	Primary B cells from cord blood	blood
19	chr2:36711600-36726800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:36711800-36726400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr2:36712000-36726400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:36712000-36726400	Weak transcription	Spleen	Spleen
23	chr2:36712000-36726600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr2:36712000-36726600	Weak transcription	Gastric	stomach
25	chr2:36712600-36726400	Weak transcription	Primary hematopoietic stem cells	blood
26	chr2:36712600-36727000	Weak transcription	Right Ventricle	heart
27	chr2:36712800-36726400	Weak transcription	Fetal Brain Female	brain
28	chr2:36712800-36726800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:36713000-36726400	Weak transcription	Left Ventricle	heart
30	chr2:36713000-36733200	Weak transcription	Pancreas	Pancrea
31	chr2:36713600-36726600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:36713600-36739200	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:36713800-36726600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:36713800-36726600	Weak transcription	Ovary	ovary
35	chr2:36713800-36733200	Weak transcription	Stomach Mucosa	stomach
36	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr2:36714400-36726600	Weak transcription	Fetal Stomach	stomach
38	chr2:36714800-36726000	Weak transcription	Fetal Lung	lung
39	chr2:36715400-36726400	Weak transcription	Adipose Nuclei	Adipose
40	chr2:36716200-36726600	Weak transcription	Fetal Intestine Small	intestine
41	chr2:36717200-36733000	Genic enhancers	A549	lung
42	chr2:36717400-36726600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:36717400-36744400	Weak transcription	Brain Angular Gyrus	brain
44	chr2:36717600-36727000	Strong transcription	HepG2	liver
45	chr2:36718000-36726600	Weak transcription	Lung	lung
46	chr2:36718200-36726600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:36718200-36726600	Weak transcription	Aorta	Aorta
48	chr2:36719800-36726200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:36720000-36726400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:36720000-36734400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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