Variant report

Variant	rs576530027
Chromosome Location	chr2:233668324-233668325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv460134	chr2:233639909-233714686	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv584696	chr2:233639909-233714686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3427756	chr2:233661496-233680721	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2600931	chr2:233667566-233669152	Weak transcription ZNF genes & repeats Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases
9	esv8516	chr2:233668124-233668798	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
10	esv2225863	chr2:233668168-233668893	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	inside rSNPs	diseases
11	esv3459360	chr2:233668256-233668778	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
12	esv3524956	chr2:233668277-233668769	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	inside rSNPs	diseases
13	esv3524949	chr2:233668286-233668786	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
14	esv3524953	chr2:233668298-233668732	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
15	esv3524950	chr2:233668300-233668713	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
16	esv3459358	chr2:233668312-233668748	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
17	esv3524957	chr2:233668313-233668726	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
18	esv3459357	chr2:233668318-233668746	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
19	esv4368	chr2:233668322-233668727	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233649000-233680600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:233655600-233689200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:233656600-233671200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:233656800-233674000	Weak transcription	Fetal Heart	heart
5	chr2:233658000-233671200	Weak transcription	NHLF	lung
6	chr2:233658400-233671200	Weak transcription	Gastric	stomach
7	chr2:233658800-233671200	Weak transcription	Small Intestine	intestine
8	chr2:233659000-233671200	Weak transcription	Fetal Brain Male	brain
9	chr2:233659600-233671200	Weak transcription	Pancreas	Pancrea
10	chr2:233659600-233671600	Weak transcription	Spleen	Spleen
11	chr2:233659800-233671200	Weak transcription	Brain Substantia Nigra	brain
12	chr2:233659800-233672400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:233660800-233688600	Weak transcription	Psoas Muscle	Psoas
14	chr2:233661000-233670200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:233661200-233671000	Weak transcription	NHDF-Ad	bronchial
16	chr2:233661200-233671200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:233661400-233671200	Weak transcription	Right Ventricle	heart
18	chr2:233661800-233670800	Weak transcription	Colonic Mucosa	Colon
19	chr2:233661800-233671000	Weak transcription	NHEK	skin
20	chr2:233661800-233671200	Weak transcription	Aorta	Aorta
21	chr2:233661800-233671200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:233662200-233670800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:233662200-233671200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:233662200-233671200	Weak transcription	HSMMtube	muscle
25	chr2:233662200-233671200	Weak transcription	NH-A	brain
26	chr2:233662200-233671400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:233662200-233671400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr2:233662400-233670200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:233662400-233671200	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr2:233662400-233671200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:233662400-233671200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr2:233662400-233671200	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:233662400-233672400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:233662400-233672600	Weak transcription	K562	blood
35	chr2:233662600-233671200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:233662600-233679800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:233662800-233670800	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr2:233663000-233671000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:233663200-233671200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:233663400-233669600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr2:233663400-233670200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr2:233663400-233670800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:233663400-233671200	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:233663400-233671200	Weak transcription	Colon Smooth Muscle	Colon
45	chr2:233664600-233671200	Weak transcription	Adipose Nuclei	Adipose
46	chr2:233665000-233672200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:233665000-233692600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr2:233665200-233670200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr2:233665200-233671400	Weak transcription	HMEC	breast
50	chr2:233665200-233671400	Weak transcription	HUVEC	blood vessel

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