Variant report

Variant	rs34748842
Chromosome Location	chr3:28285066-28285067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:28239745..28241981-chr3:28283804..28285570,2	K562	blood:
2	chr3:28281324..28283221-chr3:28283797..28285477,2	MCF-7	breast:
3	chr3:27809091..27811798-chr3:28283173..28285576,2	MCF-7	breast:
4	chr3:28283572..28286334-chr3:28300676..28304694,4	K562	blood:
5	chr3:28279814..28285757-chr3:28388127..28392208,14	K562	blood:
6	chr3:28284090..28285869-chr3:28364556..28366935,2	K562	blood:

Variant related genes	Relation type
ENSG00000206559	Chromatin interaction
ENSG00000187118	Chromatin interaction
ENSG00000163512	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11706332	0.82[ASN][1000 genomes]
rs11708424	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12107256	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13083544	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13085245	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13090296	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13092618	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13093242	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13099152	0.84[ASN][1000 genomes]
rs1599826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1606386	0.85[ASN][1000 genomes]
rs1606388	0.85[ASN][1000 genomes]
rs1610238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17021221	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17021306	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17638742	0.84[ASN][1000 genomes]
rs17638782	0.84[ASN][1000 genomes]
rs17638991	0.83[ASN][1000 genomes]
rs17695765	0.81[ASN][1000 genomes]
rs2016948	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34017994	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34419916	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34541614	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34574968	0.83[ASN][1000 genomes]
rs34681294	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35217335	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35232922	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35439056	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35460328	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35496780	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35530532	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35565264	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35575798	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35678778	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35736614	0.84[ASN][1000 genomes]
rs35768817	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35845822	0.84[ASN][1000 genomes]
rs35937120	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4522735	0.84[ASN][1000 genomes]
rs56946005	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62251105	0.83[ASN][1000 genomes]
rs62251108	0.85[ASN][1000 genomes]
rs62252069	0.84[ASN][1000 genomes]
rs66502736	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66716911	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67023418	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68097246	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71087683	0.84[ASN][1000 genomes]
rs7635383	0.85[ASN][1000 genomes]
rs952888	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28283800-28311400	Weak transcription	Lung	lung
2	chr3:28284000-28285200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:28284000-28285200	Enhancers	Primary hematopoietic stem cells	blood
4	chr3:28284000-28285200	Enhancers	Fetal Thymus	thymus
5	chr3:28284000-28285600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:28284000-28285800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr3:28284000-28285800	Enhancers	Thymus	Thymus
8	chr3:28284000-28286000	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr3:28284000-28286000	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr3:28284000-28286000	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:28284000-28286000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr3:28284000-28286200	Enhancers	Pancreas	Pancrea
13	chr3:28284000-28286400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:28284000-28286400	Weak transcription	HSMM	muscle
15	chr3:28284000-28286600	Weak transcription	Brain Angular Gyrus	brain
16	chr3:28284000-28287000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:28284000-28290000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:28284000-28290800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr3:28284000-28304800	Weak transcription	Primary B cells from cord blood	blood
20	chr3:28284000-28309600	Weak transcription	Fetal Muscle Leg	muscle
21	chr3:28284000-28313800	Weak transcription	Ovary	ovary
22	chr3:28284000-28317200	Weak transcription	Gastric	stomach
23	chr3:28284200-28285400	Transcr. at gene 5' and 3'	K562	blood
24	chr3:28284200-28285800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:28284200-28286000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr3:28284200-28286200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:28284200-28286200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr3:28284200-28286800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr3:28284200-28287200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr3:28284200-28287400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr3:28284200-28288600	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:28284200-28288800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:28284200-28292600	Weak transcription	Psoas Muscle	Psoas
34	chr3:28284200-28292800	Weak transcription	Small Intestine	intestine
35	chr3:28284400-28285200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr3:28284400-28285200	Enhancers	Primary T cells from cord blood	blood
37	chr3:28284400-28285200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr3:28284400-28285400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr3:28284400-28285400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:28284400-28285400	Weak transcription	Brain Hippocampus Middle	brain
41	chr3:28284400-28285600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr3:28284400-28285600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr3:28284400-28285600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr3:28284400-28285600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr3:28284400-28285600	Active TSS	GM12878-XiMat	blood
46	chr3:28284400-28285800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr3:28284400-28286200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr3:28284400-28286400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr3:28284400-28286400	Enhancers	Fetal Heart	heart
50	chr3:28284400-28286600	Weak transcription	Stomach Mucosa	stomach

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