Variant report

Variant	rs549093813
Chromosome Location	chr2:134023978-134023979
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	chr1:154946346..154946996-chr2:134023337..134024323,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR39-4	chr2:134023814-134024008	ENSG00000226953.3

Variant related genes	Relation type
ENSG00000160691	Chromatin interaction

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	nsv997821	chr2:133868822-134360220	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv535927	chr2:133868822-134360220	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1002488	chr2:133890159-134275312	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv535928	chr2:133890159-134275312	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1011100	chr2:133900062-134046163	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3375790	chr2:133906915-134222833	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv1005405	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv535929	chr2:133930876-134055434	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv516915	chr2:133999831-134054662	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv834384	chr2:134005229-134188648	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv3367779	chr2:134023582-134025680	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134022400-134024000	Flanking Active TSS	Brain Hippocampus Middle	brain
2	chr2:134022400-134024200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:134022600-134024000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:134022600-134024400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:134022800-134024000	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr2:134022800-134024200	Active TSS	Brain Substantia Nigra	brain
7	chr2:134022800-134024400	Active TSS	Placenta	Placenta
8	chr2:134022800-134025000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr2:134022800-134025000	Enhancers	Fetal Heart	heart
10	chr2:134022800-134025000	Active TSS	Hela-S3	cervix
11	chr2:134022800-134025200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:134023000-134024000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:134023000-134024000	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr2:134023000-134024200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:134023000-134024400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:134023000-134024400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr2:134023000-134024400	Active TSS	Rectal Smooth Muscle	rectum
18	chr2:134023000-134024400	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr2:134023000-134024800	Active TSS	Left Ventricle	heart
20	chr2:134023000-134024800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr2:134023000-134025000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr2:134023000-134025000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr2:134023000-134025200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr2:134023000-134025200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
25	chr2:134023000-134025200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
26	chr2:134023000-134025200	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr2:134023000-134025200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:134023200-134024000	Flanking Active TSS	Lung	lung
29	chr2:134023200-134024000	Enhancers	Spleen	Spleen
30	chr2:134023200-134024200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:134023200-134024400	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr2:134023200-134024800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr2:134023200-134024800	Active TSS	Psoas Muscle	Psoas
34	chr2:134023200-134024800	Active TSS	Right Atrium	heart
35	chr2:134023200-134025200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
36	chr2:134023400-134024000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:134023400-134024000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr2:134023400-134024000	Flanking Active TSS	Fetal Brain Female	brain
39	chr2:134023400-134024000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
40	chr2:134023400-134024000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
41	chr2:134023400-134024200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr2:134023400-134024200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:134023400-134024400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:134023400-134024400	Flanking Active TSS	Liver	Liver
45	chr2:134023400-134024400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
46	chr2:134023400-134024400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
47	chr2:134023400-134024600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:134023400-134025200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
49	chr2:134023600-134024000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:134023600-134024000	Flanking Active TSS	Gastric	stomach

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