Variant report

Variant	rs72995597
Chromosome Location	chr1:146626021-146626022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146599581..146601271-chr1:146625400..146627137,2	K562	blood:
2	chr1:146625774..146628182-chr1:146636960..146638871,2	K562	blood:
3	chr1:146625986..146627688-chr1:146639409..146641762,2	K562	blood:
4	chr1:146578104..146580679-chr1:146623969..146626202,2	MCF-7	breast:
5	chr1:146624878..146626860-chr1:146707008..146708792,2	K562	blood:
6	chr1:146554825..146557701-chr1:146623843..146627168,3	MCF-7	breast:
7	chr1:146625650..146629036-chr1:146636126..146639044,3	MCF-7	breast:
8	chr1:146624650..146626363-chr1:146626882..146628958,2	MCF-7	breast:
9	chr1:146591056..146593817-chr1:146625577..146627628,2	K562	blood:
10	chr1:146610691..146613596-chr1:146624055..146626822,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000230832	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs28745890	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58276129	1.00[AMR][1000 genomes]
rs58820837	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59402704	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59689147	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60063927	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60565795	1.00[AMR][1000 genomes]
rs6672821	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6702705	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72995589	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997505	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997514	1.00[AMR][1000 genomes]
rs72997527	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997542	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997571	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997577	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997586	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72997588	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999623	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999628	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999632	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999634	1.00[AMR][1000 genomes]
rs72999637	1.00[AMR][1000 genomes]
rs72999638	1.00[AMR][1000 genomes]
rs72999639	1.00[AMR][1000 genomes]
rs72999640	1.00[AMR][1000 genomes]
rs72999646	1.00[AMR][1000 genomes]
rs72999648	1.00[AMR][1000 genomes]
rs72999655	1.00[AMR][1000 genomes]
rs72999656	1.00[AMR][1000 genomes]
rs7526114	1.00[AMR][1000 genomes]
rs7527846	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7535451	1.00[AMR][1000 genomes]
rs7536442	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7546133	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757753	chr1:145883119-146697542	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv872251	chr1:146152553-146803630	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS 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 miRNA target site	95 gene(s)	inside rSNPs	diseases
3	nsv872252	chr1:146471863-147398135	Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	112 gene(s)	inside rSNPs	diseases
4	nsv999546	chr1:146507577-147356574	Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
5	nsv535123	chr1:146507577-147356574	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
6	nsv492188	chr1:146507649-147381479	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
7	nsv916754	chr1:146507711-147417736	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
8	nsv547673	chr1:146510112-147398135	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
9	nsv547674	chr1:146522722-147396797	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
10	nsv998341	chr1:146531446-147384720	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
11	nsv535124	chr1:146531446-147384720	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
12	nsv1003493	chr1:146531446-147389944	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
13	nsv998209	chr1:146543722-147384720	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
14	nsv535126	chr1:146543722-147384720	Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	110 gene(s)	inside rSNPs	diseases
15	nsv872255	chr1:146550780-146969712	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
16	nsv872256	chr1:146556596-147410973	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
17	nsv1012331	chr1:146603479-147384720	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers 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	49 gene(s)	inside rSNPs	diseases
18	nsv535131	chr1:146603479-147384720	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
19	nsv1009943	chr1:146618929-146893851	Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
20	nsv535132	chr1:146618929-146893851	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146618800-146628800	Weak transcription	Lung	lung
2	chr1:146618800-146628800	Weak transcription	Spleen	Spleen
3	chr1:146619200-146630600	Weak transcription	Gastric	stomach
4	chr1:146619800-146628000	Weak transcription	HSMMtube	muscle
5	chr1:146621600-146629400	Weak transcription	NHDF-Ad	bronchial
6	chr1:146622200-146627200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:146622400-146628000	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:146622800-146630000	Weak transcription	Small Intestine	intestine
9	chr1:146623000-146627000	Weak transcription	Fetal Intestine Large	intestine
10	chr1:146623000-146628800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:146623200-146626200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:146623200-146629000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:146623200-146629200	Weak transcription	Brain Angular Gyrus	brain
14	chr1:146623200-146629400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:146623200-146629600	Weak transcription	Fetal Brain Male	brain
16	chr1:146623400-146629200	Weak transcription	Fetal Lung	lung
17	chr1:146623400-146630400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:146623400-146630600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:146623800-146628800	Weak transcription	Fetal Stomach	stomach
20	chr1:146623800-146629000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:146623800-146629000	Weak transcription	Brain Substantia Nigra	brain
22	chr1:146623800-146629400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr1:146623800-146629600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:146624000-146627600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:146624000-146628800	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:146624000-146629000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:146624000-146629000	Weak transcription	Fetal Brain Female	brain
28	chr1:146624000-146629400	Weak transcription	Thymus	Thymus
29	chr1:146624000-146630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:146624000-146631800	Weak transcription	Esophagus	oesophagus
31	chr1:146624200-146629800	Weak transcription	GM12878-XiMat	blood
32	chr1:146624200-146632800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:146624200-146637600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:146624400-146626400	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:146624400-146627600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr1:146624400-146628000	Weak transcription	Placenta	Placenta
37	chr1:146624400-146630400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:146624400-146636000	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:146624600-146629200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:146624600-146630600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr1:146624600-146632200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:146624600-146634400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr1:146624600-146639600	Strong transcription	Primary T cells from cord blood	blood
44	chr1:146624600-146640400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:146624800-146627600	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr1:146624800-146627800	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr1:146624800-146628800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:146624800-146629400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:146624800-146629600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:146624800-146630000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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