Variant report

Variant	rs4348544
Chromosome Location	chr8:121044090-121044091
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121022166..121023935-chr8:121042029..121044989,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11986039	0.95[ASN][1000 genomes]
rs11986628	0.96[ASN][1000 genomes]
rs11993265	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401810	0.95[ASN][1000 genomes]
rs1401812	0.98[ASN][1000 genomes]
rs1401813	0.98[ASN][1000 genomes]
rs1543200	0.96[ASN][1000 genomes]
rs1543201	0.89[CEU][hapmap];0.96[ASN][1000 genomes]
rs1850886	0.92[ASN][1000 genomes]
rs1879150	0.96[ASN][1000 genomes]
rs2037342	0.96[ASN][1000 genomes]
rs2037343	0.96[ASN][1000 genomes]
rs2037344	0.95[ASN][1000 genomes]
rs2139438	0.95[ASN][1000 genomes]
rs2139439	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2176748	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2176749	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2176751	0.92[ASN][1000 genomes]
rs2271900	0.95[ASN][1000 genomes]
rs2326428	0.96[ASN][1000 genomes]
rs2326430	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2326433	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2326434	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2875927	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2875932	1.00[ASN][1000 genomes]
rs28885745	0.96[ASN][1000 genomes]
rs4086915	0.96[ASN][1000 genomes]
rs4520205	0.88[ASN][1000 genomes]
rs4621850	0.94[ASN][1000 genomes]
rs4871031	0.94[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871032	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469882	0.82[CEU][hapmap];0.96[ASN][1000 genomes]
rs6469888	0.89[CEU][hapmap];0.96[ASN][1000 genomes]
rs6469891	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6469893	0.97[ASN][1000 genomes]
rs6985424	0.94[CEU][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6997910	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7012522	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7386139	0.94[CEU][hapmap];0.94[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7387672	0.90[CEU][hapmap];0.96[ASN][1000 genomes]
rs7464941	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7813264	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7817075	0.90[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7817379	0.98[ASN][1000 genomes]
rs7821583	0.88[CEU][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7821842	0.94[CEU][hapmap];0.94[YRI][hapmap];0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7822000	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7822384	1.00[CEU][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7824637	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7829279	0.96[ASN][1000 genomes]
rs7832657	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7840668	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7845541	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7846263	0.90[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs867709	0.96[ASN][1000 genomes]
rs9297609	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv891419	chr8:120990455-121047798	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121004000-121048000	Weak transcription	Stomach Mucosa	stomach
2	chr8:121005200-121045800	Weak transcription	Psoas Muscle	Psoas
3	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
4	chr8:121020000-121044800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:121020000-121046000	Weak transcription	Esophagus	oesophagus
6	chr8:121022200-121048200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
8	chr8:121022800-121053000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:121029800-121048400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:121032000-121058000	Weak transcription	Pancreas	Pancrea
11	chr8:121032200-121044800	Weak transcription	Gastric	stomach
12	chr8:121032400-121044800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:121033000-121046200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr8:121036000-121063800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr8:121038200-121044800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:121038400-121045000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr8:121038400-121061800	Weak transcription	Adipose Nuclei	Adipose
18	chr8:121038600-121044800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr8:121040400-121044600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:121040600-121044800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:121040600-121044800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:121041800-121046600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:121042000-121045000	Strong transcription	Fetal Intestine Large	intestine
24	chr8:121042000-121063400	Weak transcription	Spleen	Spleen
25	chr8:121042400-121046000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:121042400-121048000	Weak transcription	Brain Angular Gyrus	brain
27	chr8:121042400-121048000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr8:121042600-121044800	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:121042600-121044800	Weak transcription	Ovary	ovary
30	chr8:121042600-121045600	Weak transcription	Fetal Kidney	kidney
31	chr8:121042600-121048000	Weak transcription	Brain Cingulate Gyrus	brain
32	chr8:121042600-121048000	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:121043000-121046200	Strong transcription	Fetal Intestine Small	intestine
34	chr8:121043800-121045000	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr8:121043800-121045200	Strong transcription	Liver	Liver
36	chr8:121043800-121046200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:121043800-121046200	Strong transcription	Fetal Muscle Trunk	muscle
38	chr8:121043800-121046600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr8:121044000-121045000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:121044000-121045600	Enhancers	Colon Smooth Muscle	Colon
41	chr8:121044000-121046400	Strong transcription	Brain Substantia Nigra	brain
42	chr8:121044000-121048000	Genic enhancers	Fetal Stomach	stomach

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