Variant report

Variant	rs530038138
Chromosome Location	chr2:153319190-153319191
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834419	chr2:153179420-153381476	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3693436	chr2:153219836-153479857	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875291	chr2:153251742-153339823	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	esv2754362	chr2:153297577-153366129	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv875292	chr2:153308471-153357383	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv2830258	chr2:153318339-153349165	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153301800-153321000	Weak transcription	Right Atrium	heart
2	chr2:153302400-153321600	Weak transcription	Left Ventricle	heart
3	chr2:153303400-153322600	Weak transcription	NHLF	lung
4	chr2:153304400-153321800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:153305600-153321800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:153306200-153319800	Weak transcription	Psoas Muscle	Psoas
7	chr2:153306200-153320200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:153309400-153321600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:153309400-153323600	Enhancers	Brain Angular Gyrus	brain
10	chr2:153311800-153321600	Weak transcription	Lung	lung
11	chr2:153312000-153320400	Weak transcription	Fetal Brain Male	brain
12	chr2:153312000-153321400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:153313000-153320800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:153313000-153321000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:153313000-153321600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:153313000-153322000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:153313200-153321200	Weak transcription	A549	lung
18	chr2:153313200-153321600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:153313400-153321200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:153313400-153321400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:153313800-153321000	Weak transcription	NHEK	skin
22	chr2:153314800-153321000	Enhancers	Brain Anterior Caudate	brain
23	chr2:153315200-153321200	Weak transcription	Placenta	Placenta
24	chr2:153317400-153321400	Weak transcription	Aorta	Aorta
25	chr2:153317400-153328000	Enhancers	Brain Substantia Nigra	brain
26	chr2:153318000-153321000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:153318400-153319200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:153318400-153319200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:153318400-153319400	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr2:153318400-153319600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:153318400-153320600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:153318400-153327200	Enhancers	HepG2	liver
33	chr2:153318600-153319600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr2:153318600-153319600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:153318600-153320000	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr2:153318600-153320200	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:153318600-153323800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:153318600-153324600	Enhancers	Ovary	ovary
39	chr2:153318800-153319400	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr2:153319000-153319400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr2:153319000-153319400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:153319000-153319400	Flanking Active TSS	Brain Cingulate Gyrus	brain
43	chr2:153319000-153319600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:153319000-153321000	Enhancers	Skeletal Muscle Male	skeletal muscle

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