Variant report

Variant	rs72930734
Chromosome Location	chr3:100451171-100451172
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100451065..100453351-chr3:100454518..100456261,2	K562	blood:
2	chr3:100442764..100445441-chr3:100450170..100452232,2	K562	blood:

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1027703	0.83[AMR][1000 genomes]
rs1319005	0.83[AMR][1000 genomes]
rs13315123	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13316513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13317522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13317752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13318765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13318793	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13319530	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13325014	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13326828	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13327329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13433681	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13433684	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13434023	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16842638	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16842679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16842705	0.83[AMR][1000 genomes]
rs16847405	0.83[AMR][1000 genomes]
rs2128224	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2128225	0.83[AMR][1000 genomes]
rs2128226	0.83[AMR][1000 genomes]
rs28380383	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28469597	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28523825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28530760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35648279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41272979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4317136	0.83[AMR][1000 genomes]
rs57687306	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58121738	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60162187	1.00[AMR][1000 genomes]
rs72917383	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72919417	1.00[AMR][1000 genomes]
rs72919423	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919426	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72919429	1.00[AMR][1000 genomes]
rs72919433	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72928625	1.00[AMR][1000 genomes]
rs72928626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72928628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72928634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72928641	1.00[AMR][1000 genomes]
rs72928658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72928677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72928680	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72928681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72928697	0.83[AMR][1000 genomes]
rs72928698	0.83[AMR][1000 genomes]
rs72928991	1.00[AMR][1000 genomes]
rs72929000	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930607	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72930614	0.83[AMR][1000 genomes]
rs72930617	0.83[AMR][1000 genomes]
rs72930638	1.00[AMR][1000 genomes]
rs72930703	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72930730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73861218	1.00[EUR][1000 genomes]
rs9290170	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9290213	1.00[AMR][1000 genomes]
rs9631470	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs967308	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs967309	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9809520	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9811997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9813673	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9817424	0.83[AMR][1000 genomes]
rs9817550	1.00[AMR][1000 genomes]
rs9817756	1.00[AMR][1000 genomes]
rs9818055	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9818126	0.83[AMR][1000 genomes]
rs9822139	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9823506	0.83[AMR][1000 genomes]
rs9824297	0.83[AMR][1000 genomes]
rs9825075	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9826446	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9828249	1.00[EUR][1000 genomes]
rs9833043	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9833524	0.83[AMR][1000 genomes]
rs9834987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9837310	1.00[EUR][1000 genomes]
rs9839133	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9840416	0.83[AMR][1000 genomes]
rs9842040	0.83[AMR][1000 genomes]
rs9843775	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9849252	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9850735	1.00[AMR][1000 genomes]
rs9853377	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9853496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9853591	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9853596	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9855255	1.00[AMR][1000 genomes]
rs9856776	0.83[AMR][1000 genomes]
rs9859445	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9859523	0.83[AMR][1000 genomes]
rs9859730	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9861416	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9863695	1.00[EUR][1000 genomes]
rs9864113	0.83[AMR][1000 genomes]
rs9865004	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9866866	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9868472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9870028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9871767	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9876666	1.00[EUR][1000 genomes]
rs9876678	0.83[AMR][1000 genomes]
rs9877865	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9878155	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9879396	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9881780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9881943	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9883418	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751965	chr3:100299310-100462527	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	esv2751966	chr3:100299310-100468500	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS 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	17 gene(s)	inside rSNPs	diseases
3	esv2751967	chr3:100299329-100455139	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv2751968	chr3:100299329-100476713	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv432466	chr3:100299329-100476713	Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	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
7	nsv877220	chr3:100324442-100467018	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv591157	chr3:100335088-100455139	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking 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	17 gene(s)	inside rSNPs	diseases
9	esv2751971	chr3:100342493-100468500	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv460787	chr3:100350745-100467018	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv591164	chr3:100350745-100467018	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	esv2751973	chr3:100354170-100476713	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
15	esv2751974	chr3:100354170-100476713	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
16	nsv536670	chr3:100354611-100451403	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	esv3449905	chr3:100450913-100451320	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100429600-100454400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:100429800-100454400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:100429800-100455200	Weak transcription	Brain Substantia Nigra	brain
4	chr3:100429800-100475000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:100430400-100473000	Strong transcription	Fetal Thymus	thymus
6	chr3:100431000-100454400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:100431200-100473000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr3:100431400-100452400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr3:100432400-100474400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr3:100432800-100473600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr3:100433000-100472400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr3:100433200-100451800	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr3:100434400-100478200	Weak transcription	Spleen	Spleen
14	chr3:100435600-100455400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:100436000-100474400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr3:100436600-100471600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr3:100436800-100473000	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr3:100437000-100461600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr3:100437200-100453800	Weak transcription	Small Intestine	intestine
20	chr3:100437400-100472600	Strong transcription	Dnd41	blood
21	chr3:100437600-100475000	Strong transcription	Placenta	Placenta
22	chr3:100437800-100474400	Strong transcription	Duodenum Mucosa	Duodenum
23	chr3:100438800-100473800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:100441000-100452800	Weak transcription	Colonic Mucosa	Colon
25	chr3:100441000-100452800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr3:100441000-100453000	Weak transcription	Aorta	Aorta
27	chr3:100441000-100456200	Weak transcription	Gastric	stomach
28	chr3:100441000-100458600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:100441000-100470800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr3:100441000-100473000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:100441000-100474400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:100441000-100479400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:100443200-100462200	Strong transcription	Adipose Nuclei	Adipose
34	chr3:100443400-100472200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:100443600-100466000	Strong transcription	Fetal Intestine Large	intestine
36	chr3:100444600-100471800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr3:100444600-100474400	Strong transcription	HSMM	muscle
38	chr3:100444800-100451400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr3:100445200-100453200	Weak transcription	Stomach Mucosa	stomach
40	chr3:100445200-100456200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr3:100445200-100457400	Strong transcription	Hela-S3	cervix
42	chr3:100445200-100470400	Strong transcription	HepG2	liver
43	chr3:100445400-100455400	Weak transcription	Right Atrium	heart
44	chr3:100445400-100472200	Weak transcription	Psoas Muscle	Psoas
45	chr3:100445400-100473800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr3:100445400-100475600	Weak transcription	Pancreas	Pancrea
47	chr3:100445600-100451400	Weak transcription	Thymus	Thymus
48	chr3:100445600-100455200	Weak transcription	Brain Germinal Matrix	brain
49	chr3:100445600-100455400	Weak transcription	Brain Anterior Caudate	brain
50	chr3:100445800-100456000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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