Variant report

Variant	rs604231
Chromosome Location	chr3:121233568-121233569
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11914436	0.82[EUR][1000 genomes]
rs3218634	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3898024	0.85[EUR][1000 genomes]
rs4440066	0.83[EUR][1000 genomes]
rs482256	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs487848	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs494140	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs501099	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs507353	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs532411	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs546930	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs552404	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs555890	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56402221	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs630138	0.86[AFR][1000 genomes]
rs669277	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs697019	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs716688	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73183172	0.85[EUR][1000 genomes]
rs73191762	0.85[EUR][1000 genomes]
rs794323	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9289170	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9824168	0.85[EUR][1000 genomes]
rs9828736	0.85[EUR][1000 genomes]
rs9828910	0.85[EUR][1000 genomes]
rs9860047	0.82[EUR][1000 genomes]
rs9868609	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9878946	0.83[EUR][1000 genomes]
rs9883968	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998555	chr3:120700604-121348015	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv591400	chr3:121070299-121339354	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv999335	chr3:121100283-121408766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv877381	chr3:121192350-121343500	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1007522	chr3:121200563-121374051	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121151200-121263800	Weak transcription	Duodenum Mucosa	Duodenum
2	chr3:121177200-121237000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr3:121178200-121263800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:121183800-121234400	Weak transcription	Primary B cells from cord blood	blood
5	chr3:121186400-121255600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr3:121192200-121233600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr3:121193200-121237000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:121195600-121233800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr3:121200600-121264000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:121201000-121250600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:121202400-121263200	Weak transcription	NHLF	lung
12	chr3:121202400-121263800	Weak transcription	HSMM	muscle
13	chr3:121202800-121236600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr3:121209400-121263600	Weak transcription	NHDF-Ad	bronchial
15	chr3:121210000-121246400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr3:121210200-121241400	Weak transcription	Fetal Muscle Leg	muscle
17	chr3:121224600-121234000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr3:121225200-121234800	Weak transcription	Brain Germinal Matrix	brain
19	chr3:121225600-121236400	Weak transcription	Fetal Lung	lung
20	chr3:121225800-121236200	Weak transcription	K562	blood
21	chr3:121227200-121233800	Weak transcription	Fetal Intestine Large	intestine
22	chr3:121227400-121234600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:121229000-121234600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:121229000-121238600	Weak transcription	HMEC	breast
25	chr3:121229000-121239200	Weak transcription	HUVEC	blood vessel
26	chr3:121229000-121244600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:121229000-121253200	Weak transcription	HepG2	liver
28	chr3:121229200-121233600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr3:121229200-121233600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr3:121229200-121235800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr3:121229200-121236600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:121229600-121233600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr3:121229600-121263000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr3:121230600-121239400	Weak transcription	Fetal Stomach	stomach
35	chr3:121230800-121233600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr3:121230800-121260200	Strong transcription	Dnd41	blood
37	chr3:121231400-121233800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr3:121231400-121233800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:121231400-121234000	Weak transcription	Fetal Thymus	thymus
40	chr3:121231400-121234400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:121231400-121235600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr3:121231400-121235600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr3:121231600-121233600	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr3:121231600-121235000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr3:121232200-121235400	Weak transcription	Hela-S3	cervix
46	chr3:121232200-121263800	Weak transcription	Fetal Heart	heart
47	chr3:121233200-121233800	Strong transcription	GM12878-XiMat	blood
48	chr3:121233200-121234800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr3:121233200-121236600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr3:121233200-121242400	Strong transcription	Monocytes-CD14+_RO01746	blood

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