Variant report

Variant	rs143848637
Chromosome Location	chr2:148677125-148677126
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv1009602	chr2:148668195-148844240	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv535967	chr2:148668195-148844240	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv1000246	chr2:148669162-148780280	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv535968	chr2:148669162-148780280	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535969	chr2:148677122-148715921	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
2	chr2:148646200-148684400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:148646600-148691000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr2:148647200-148719600	Weak transcription	Pancreas	Pancrea
5	chr2:148650200-148719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:148651200-148691600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr2:148652800-148690000	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:148652800-148693600	Weak transcription	Lung	lung
9	chr2:148653200-148692000	Weak transcription	Ovary	ovary
10	chr2:148653200-148719600	Weak transcription	Esophagus	oesophagus
11	chr2:148654000-148690000	Weak transcription	Primary T cells from cord blood	blood
12	chr2:148657800-148683000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:148658800-148741600	Weak transcription	Aorta	Aorta
14	chr2:148659600-148719800	Weak transcription	Gastric	stomach
15	chr2:148661600-148718200	Weak transcription	Fetal Intestine Small	intestine
16	chr2:148662000-148683800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr2:148663000-148692200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:148664600-148721200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:148664800-148693800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:148668600-148682400	Weak transcription	Psoas Muscle	Psoas
21	chr2:148668600-148683600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:148668600-148691800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:148668800-148683400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:148669200-148678000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr2:148670600-148690200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr2:148671200-148690200	Weak transcription	Placenta	Placenta
27	chr2:148671600-148690200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr2:148671800-148677800	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:148671800-148679000	Weak transcription	NHDF-Ad	bronchial
30	chr2:148671800-148680200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:148671800-148683200	Weak transcription	Fetal Brain Male	brain
32	chr2:148671800-148683600	Weak transcription	Osteobl	bone
33	chr2:148671800-148687400	Weak transcription	NH-A	brain
34	chr2:148671800-148690200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:148671800-148691800	Weak transcription	NHLF	lung
36	chr2:148671800-148692000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:148671800-148698800	Weak transcription	NHEK	skin
38	chr2:148671800-148719600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:148672000-148678600	Weak transcription	Fetal Stomach	stomach
40	chr2:148672000-148683200	Weak transcription	HMEC	breast
41	chr2:148672000-148684600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:148672000-148691400	Weak transcription	Brain Anterior Caudate	brain
43	chr2:148672000-148692000	Weak transcription	Brain Substantia Nigra	brain
44	chr2:148672000-148692800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:148672000-148693000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:148672200-148683200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:148672200-148683400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:148672200-148683800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:148672200-148684000	Weak transcription	Fetal Brain Female	brain
50	chr2:148672200-148688400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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