Variant report

Variant	rs72855717
Chromosome Location	chr1:9840478-9840479
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs4988680	1.00[AMR][1000 genomes]
rs58978222	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6664451	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72855710	1.00[AMR][1000 genomes]
rs72855712	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72855750	1.00[AMR][1000 genomes]
rs72871215	1.00[AMR][1000 genomes]
rs72871220	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72871223	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72871231	1.00[AMR][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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv2298	chr1:9826286-9857487	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9801400-9854200	Weak transcription	Fetal Kidney	kidney
2	chr1:9811800-9857000	Weak transcription	Aorta	Aorta
3	chr1:9813800-9852200	Weak transcription	Right Atrium	heart
4	chr1:9816600-9842400	Weak transcription	HUVEC	blood vessel
5	chr1:9822200-9844400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:9824200-9846800	Weak transcription	Spleen	Spleen
7	chr1:9827400-9852200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:9828200-9844600	Weak transcription	NH-A	brain
9	chr1:9829400-9842200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:9829800-9842000	Weak transcription	Hela-S3	cervix
11	chr1:9833000-9840800	Weak transcription	Brain Substantia Nigra	brain
12	chr1:9833000-9848200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:9833200-9840800	Weak transcription	Brain Anterior Caudate	brain
14	chr1:9833200-9844400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr1:9833400-9840800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:9833400-9840800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr1:9833400-9842000	Weak transcription	A549	lung
18	chr1:9833400-9843000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr1:9833400-9844200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:9833400-9844400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:9833400-9844400	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:9833400-9844600	Weak transcription	Primary B cells from cord blood	blood
23	chr1:9833400-9845400	Weak transcription	Colonic Mucosa	Colon
24	chr1:9833400-9845600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:9833400-9846400	Weak transcription	Thymus	Thymus
26	chr1:9833400-9846600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:9833400-9846800	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr1:9833400-9846800	Weak transcription	Primary T cells from cord blood	blood
29	chr1:9833400-9846800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr1:9833400-9846800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:9833400-9846800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:9833400-9846800	Weak transcription	Esophagus	oesophagus
33	chr1:9833400-9846800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:9833400-9847000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:9833400-9848000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr1:9833400-9849200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr1:9833400-9851400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr1:9833400-9852200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:9833400-9852200	Weak transcription	Brain Angular Gyrus	brain
40	chr1:9833400-9852200	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:9833400-9852200	Weak transcription	Fetal Lung	lung
42	chr1:9833400-9852200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:9833400-9852400	Weak transcription	HSMMtube	muscle
44	chr1:9833400-9852600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:9833400-9854000	Weak transcription	Fetal Intestine Large	intestine
46	chr1:9833600-9840800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:9833600-9841000	Weak transcription	Fetal Brain Female	brain
48	chr1:9833600-9842600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr1:9833600-9844400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:9833600-9844400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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