Variant report

Variant	rs368955312
Chromosome Location	chr2:152352916-152352917
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	chr2:152351759..152353707-chr2:152360537..152362140,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription 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 miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv834418	chr2:152205803-152385516	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv933869	chr2:152308156-152391576	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv934136	chr2:152308156-152664443	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv437298	chr2:152320118-152356361	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	esv3693428	chr2:152320932-152434896	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	esv3362000	chr2:152352857-152353579	Weak transcription Enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152267600-152379400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:152304800-152354000	Weak transcription	Spleen	Spleen
3	chr2:152320800-152358600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:152324200-152382400	Weak transcription	Aorta	Aorta
5	chr2:152326400-152367400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:152336800-152355000	Strong transcription	Fetal Muscle Leg	muscle
7	chr2:152338200-152356600	Strong transcription	HSMMtube	muscle
8	chr2:152338200-152370000	Strong transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:152338600-152358200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr2:152339600-152354400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr2:152340400-152371000	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr2:152340600-152364600	Weak transcription	HepG2	liver
13	chr2:152341200-152366200	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr2:152341600-152353400	Weak transcription	NHEK	skin
15	chr2:152341600-152390600	Weak transcription	Left Ventricle	heart
16	chr2:152341800-152364400	Weak transcription	Fetal Intestine Small	intestine
17	chr2:152342200-152355000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr2:152342400-152353000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:152342800-152366200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:152343000-152360800	Weak transcription	Psoas Muscle	Psoas
21	chr2:152343000-152365200	Weak transcription	Fetal Lung	lung
22	chr2:152343200-152422200	Weak transcription	Primary B cells from cord blood	blood
23	chr2:152343400-152355000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:152343400-152366800	Weak transcription	Dnd41	blood
25	chr2:152343400-152371000	Weak transcription	Adipose Nuclei	Adipose
26	chr2:152343400-152373000	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:152343600-152362400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr2:152344000-152366400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr2:152346200-152370000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:152347000-152387200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr2:152347200-152362800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:152348000-152364400	Weak transcription	Fetal Stomach	stomach
33	chr2:152348600-152369600	Weak transcription	K562	blood
34	chr2:152348800-152366200	Weak transcription	Primary T cells from cord blood	blood
35	chr2:152348800-152400800	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr2:152349000-152354800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr2:152349200-152354400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr2:152349400-152370000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:152350000-152354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:152350000-152358600	Weak transcription	HSMM	muscle
41	chr2:152350000-152362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr2:152350000-152366200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:152350600-152354200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr2:152350600-152354200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr2:152350800-152354200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:152351000-152354200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:152352600-152353000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr2:152352800-152359800	Weak transcription	Fetal Muscle Trunk	muscle

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