Variant report

Variant	rs375602055
Chromosome Location	chr1:72748149-72748150
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428454	chr1:72504469-72926256	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv1013250	chr1:72603540-72762582	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv830192	chr1:72616562-72806118	Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1014832	chr1:72642420-72823477	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv534997	chr1:72642420-72823477	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv1835472	chr1:72720026-72820015	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1008754	chr1:72733738-72763358	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
8	nsv1376	chr1:72734578-72823386	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv254	chr1:72734991-72823194	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
10	esv1826553	chr1:72738721-72763358	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
11	nsv1002724	chr1:72738857-72763358	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
12	nsv1013213	chr1:72739953-72802492	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1014214	chr1:72740734-72808756	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
14	nsv1010247	chr1:72740734-72809419	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	nsv1002360	chr1:72740734-72809830	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
16	nsv1007840	chr1:72740734-72810926	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
17	nsv998364	chr1:72740734-72811136	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
18	nsv1007101	chr1:72740734-72812440	Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
19	nsv1011285	chr1:72740734-72818878	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
20	esv2757734	chr1:72742396-72886813	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
21	esv2758939	chr1:72742396-72886813	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
22	esv3491557	chr1:72742853-72851634	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
23	esv3491558	chr1:72742853-72851634	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
24	nsv1000767	chr1:72746521-72779262	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
25	nsv1006854	chr1:72746521-72784210	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
26	nsv1002085	chr1:72746521-72797400	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
27	nsv997271	chr1:72746521-72805796	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
28	nsv998162	chr1:72746521-72808739	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
29	nsv1004319	chr1:72746521-72809419	Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
30	nsv1008824	chr1:72746521-72809830	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
31	nsv999300	chr1:72746521-72811136	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
32	nsv997734	chr1:72746521-72811904	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
33	nsv997689	chr1:72746521-72812440	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
34	esv2764234	chr1:72746533-72812440	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
35	nsv1005389	chr1:72746569-72811136	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
36	esv33679	chr1:72746579-72750627	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
37	esv3349548	chr1:72747614-72749662	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72743800-72751600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr1:72745000-72750800	Active TSS	Stomach Smooth Muscle	stomach
3	chr1:72745000-72751200	Active TSS	Brain Angular Gyrus	brain
4	chr1:72745000-72751600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:72745200-72751400	Active TSS	Right Atrium	heart
6	chr1:72745800-72748200	Flanking Active TSS	Dnd41	blood
7	chr1:72745800-72750800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:72745800-72750800	Active TSS	Brain Substantia Nigra	brain
9	chr1:72745800-72751200	Active TSS	Colon Smooth Muscle	Colon
10	chr1:72745800-72751400	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr1:72745800-72751400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:72746000-72751400	Active TSS	Brain Anterior Caudate	brain
13	chr1:72746000-72751400	Active TSS	NHLF	lung
14	chr1:72746400-72750800	Active TSS	Rectal Smooth Muscle	rectum
15	chr1:72746400-72751000	Active TSS	HSMMtube	muscle
16	chr1:72746600-72748200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr1:72746600-72750000	Active TSS	HSMM	muscle
18	chr1:72746600-72750800	Active TSS	Psoas Muscle	Psoas
19	chr1:72746600-72751000	Active TSS	Fetal Stomach	stomach
20	chr1:72746800-72748200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:72746800-72750200	Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr1:72746800-72751000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
23	chr1:72746800-72751400	Active TSS	Aorta	Aorta
24	chr1:72746800-72751600	Active TSS	NHDF-Ad	bronchial
25	chr1:72747000-72748200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
26	chr1:72747000-72748200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:72747000-72748200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
28	chr1:72747000-72748400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
29	chr1:72747000-72750600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
30	chr1:72747000-72750600	Active TSS	Hela-S3	cervix
31	chr1:72747000-72750800	Active TSS	Left Ventricle	heart
32	chr1:72747200-72748600	Bivalent/Poised TSS	Fetal Lung	lung
33	chr1:72747200-72750000	Active TSS	Osteobl	bone
34	chr1:72747200-72750400	Active TSS	Fetal Kidney	kidney
35	chr1:72747200-72751000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
36	chr1:72747200-72751400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:72747200-72751400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:72747200-72751800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:72747400-72748200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr1:72747400-72748200	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr1:72747400-72748400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr1:72747400-72750600	Active TSS	Fetal Heart	heart
43	chr1:72747400-72750600	Active TSS	Thymus	Thymus
44	chr1:72747400-72750800	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr1:72747400-72750800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:72747400-72751000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:72747400-72751000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:72747400-72751000	Active TSS	Muscle Satellite Cultured Cells	--
49	chr1:72747400-72751000	Active TSS	Brain Hippocampus Middle	brain
50	chr1:72747400-72751200	Active TSS	Brain Cingulate Gyrus	brain

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