Variant report

Variant	rs72683668
Chromosome Location	chr1:78110649-78110650
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17381128	1.00[EUR][1000 genomes]
rs17381238	1.00[EUR][1000 genomes]
rs56259955	0.81[AMR][1000 genomes]
rs6657424	0.92[EUR][1000 genomes]
rs6702968	0.92[EUR][1000 genomes]
rs72683614	1.00[EUR][1000 genomes]
rs72683621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683632	1.00[EUR][1000 genomes]
rs72683638	1.00[EUR][1000 genomes]
rs72683639	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683647	1.00[EUR][1000 genomes]
rs72683657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683661	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683700	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72683702	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72685313	1.00[EUR][1000 genomes]
rs72685315	1.00[EUR][1000 genomes]
rs7517486	0.92[EUR][1000 genomes]
rs7546981	0.92[EUR][1000 genomes]
rs7550626	0.92[EUR][1000 genomes]
rs9661264	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870709	chr1:78016517-78198322	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats 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	22 gene(s)	inside rSNPs	diseases
4	esv3337461	chr1:78036000-78153859	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78076400-78113000	Weak transcription	Psoas Muscle	Psoas
2	chr1:78094800-78113600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:78096200-78111000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:78098400-78113400	Weak transcription	Pancreas	Pancrea
5	chr1:78098400-78116800	Weak transcription	Right Ventricle	heart
6	chr1:78098600-78111400	Weak transcription	Brain Germinal Matrix	brain
7	chr1:78098600-78113200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:78099000-78111600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:78099000-78112600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:78099000-78113800	Weak transcription	Fetal Brain Male	brain
11	chr1:78099000-78113800	Weak transcription	Spleen	Spleen
12	chr1:78099000-78147200	Weak transcription	Gastric	stomach
13	chr1:78099200-78114000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:78099200-78115000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:78099200-78120800	Weak transcription	Small Intestine	intestine
16	chr1:78099200-78132400	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:78099600-78116800	Weak transcription	Aorta	Aorta
18	chr1:78100600-78111600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:78100800-78115800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:78100800-78116600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:78100800-78133200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:78101000-78111000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:78101000-78113200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:78102600-78114400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:78103800-78111600	Strong transcription	Dnd41	blood
26	chr1:78105000-78114200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr1:78105200-78111000	Weak transcription	Fetal Lung	lung
28	chr1:78105200-78114200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:78105200-78117000	Weak transcription	HSMMtube	muscle
30	chr1:78105200-78131800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr1:78105400-78112800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:78105400-78120600	Weak transcription	NH-A	brain
33	chr1:78105800-78122400	Weak transcription	HMEC	breast
34	chr1:78106400-78111200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr1:78107400-78114200	Weak transcription	K562	blood
36	chr1:78107600-78146000	Weak transcription	Fetal Kidney	kidney
37	chr1:78108200-78111200	Strong transcription	Osteobl	bone
38	chr1:78108400-78110800	Weak transcription	NHEK	skin
39	chr1:78108800-78114400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:78109000-78111400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:78109200-78113400	Weak transcription	Brain Anterior Caudate	brain
42	chr1:78109400-78111400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:78109400-78114000	Weak transcription	Brain Substantia Nigra	brain
44	chr1:78109400-78114200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr1:78109600-78114400	Weak transcription	Brain Angular Gyrus	brain
46	chr1:78109800-78110800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr1:78109800-78111400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:78109800-78111400	Strong transcription	Fetal Muscle Leg	muscle
49	chr1:78109800-78111800	Strong transcription	Fetal Stomach	stomach
50	chr1:78109800-78113600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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