Variant report

Variant	rs72930632
Chromosome Location	chr3:100478079-100478080
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:100476994..100479281-chr3:100486300..100488381,2	K562	blood:
2	chr3:100473925..100475796-chr3:100476025..100478809,2	MCF-7	breast:
3	chr3:100477781..100481491-chr3:100485242..100489259,3	K562	blood:
4	chr3:100468860..100470969-chr3:100476440..100479062,2	K562	blood:
5	chr3:100477399..100478933-chr3:100482930..100484757,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154175	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs57808154	1.00[AFR][1000 genomes]
rs57880779	1.00[AFR][1000 genomes]
rs58073790	1.00[AFR][1000 genomes]
rs58285457	0.88[AFR][1000 genomes]
rs59374249	1.00[AFR][1000 genomes]
rs60130421	1.00[AFR][1000 genomes]
rs60359060	1.00[AFR][1000 genomes]
rs72915270	0.88[AFR][1000 genomes]
rs72915287	0.88[AFR][1000 genomes]
rs72915299	0.88[AFR][1000 genomes]
rs72917322	0.88[AFR][1000 genomes]
rs72919404	1.00[AFR][1000 genomes]
rs72919406	1.00[AFR][1000 genomes]
rs72919437	1.00[AFR][1000 genomes]
rs72928653	1.00[AFR][1000 genomes]
rs72928666	1.00[AFR][1000 genomes]
rs72928670	1.00[AFR][1000 genomes]
rs72928695	1.00[AFR][1000 genomes]
rs72928994	1.00[AFR][1000 genomes]
rs72930643	0.94[AFR][1000 genomes]
rs72930646	0.94[AFR][1000 genomes]
rs72930656	1.00[AFR][1000 genomes]
rs72930658	1.00[AFR][1000 genomes]
rs72930661	1.00[AFR][1000 genomes]
rs72930666	1.00[AFR][1000 genomes]
rs72930674	0.89[AFR][1000 genomes]
rs72930685	1.00[AFR][1000 genomes]
rs72930686	1.00[AFR][1000 genomes]
rs72930687	1.00[AFR][1000 genomes]
rs72930720	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751969	chr3:100312499-100479384	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	esv2751972	chr3:100342493-100493062	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv432469	chr3:100342493-100493062	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100434400-100478200	Weak transcription	Spleen	Spleen
2	chr3:100441000-100479400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:100450000-100501000	Weak transcription	Esophagus	oesophagus
4	chr3:100453200-100479000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr3:100457200-100480200	Weak transcription	Brain Angular Gyrus	brain
6	chr3:100459400-100478200	Weak transcription	Fetal Stomach	stomach
7	chr3:100467400-100497600	Weak transcription	Fetal Intestine Small	intestine
8	chr3:100468200-100488600	Weak transcription	Colon Smooth Muscle	Colon
9	chr3:100469400-100480200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:100469600-100479200	Weak transcription	Fetal Brain Male	brain
11	chr3:100469800-100498200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:100469800-100501400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:100470200-100498400	Weak transcription	Right Ventricle	heart
14	chr3:100471000-100495800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr3:100471200-100478200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr3:100471200-100480200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:100471600-100478400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:100471600-100500400	Weak transcription	Lung	lung
19	chr3:100471800-100479400	Weak transcription	Fetal Kidney	kidney
20	chr3:100471800-100486200	Weak transcription	Brain Substantia Nigra	brain
21	chr3:100471800-100494600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:100471800-100502000	Weak transcription	Brain Anterior Caudate	brain
23	chr3:100472600-100484600	Weak transcription	NHEK	skin
24	chr3:100472800-100478200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr3:100472800-100482800	Weak transcription	NHLF	lung
26	chr3:100472800-100494400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr3:100473000-100478200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr3:100473000-100479800	Weak transcription	GM12878-XiMat	blood
29	chr3:100473000-100480400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr3:100473400-100480200	Weak transcription	A549	lung
31	chr3:100473400-100488400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr3:100473600-100478200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:100473600-100478200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr3:100473600-100480000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:100473600-100488600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr3:100473600-100488800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:100473600-100489200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr3:100473800-100484600	Weak transcription	HMEC	breast
39	chr3:100473800-100496400	Weak transcription	Fetal Intestine Large	intestine
40	chr3:100474000-100488800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:100474200-100482400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr3:100474400-100478200	Weak transcription	Ovary	ovary
43	chr3:100474400-100478800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr3:100474400-100480600	Weak transcription	Primary T cells from cord blood	blood
45	chr3:100474400-100484800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:100474400-100494200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr3:100474400-100500200	Weak transcription	HSMM	muscle
48	chr3:100474400-100501200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:100474800-100482800	Weak transcription	HSMMtube	muscle
50	chr3:100475000-100488000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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