Variant report

Variant	rs2321895
Chromosome Location	chr6:79597361-79597362
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	chr6:79595328..79597841-chr6:79600985..79603258,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10755377	0.84[EUR][1000 genomes]
rs10943596	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs10943600	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10943608	0.83[EUR][1000 genomes]
rs12153837	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12196457	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12196485	0.84[EUR][1000 genomes]
rs2063123	0.83[EUR][1000 genomes]
rs2874643	0.84[EUR][1000 genomes]
rs36128361	0.81[EUR][1000 genomes]
rs4706743	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4706746	0.83[EUR][1000 genomes]
rs9350792	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9352663	0.84[EUR][1000 genomes]
rs9361455	0.84[EUR][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	nsv1015352	chr6:79521820-79757024	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv1839807	chr6:79532610-79606615	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2321895	IRAK1BP1	cis	Thyroid	GTEx
rs2321895	IRAK1BP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:79578200-79597800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr6:79578200-79608600	Weak transcription	Adipose Nuclei	Adipose
3	chr6:79578200-79608600	Weak transcription	Left Ventricle	heart
4	chr6:79578200-79613600	Weak transcription	HSMM	muscle
5	chr6:79578400-79613800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:79578400-79619800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr6:79578400-79620000	Weak transcription	Right Ventricle	heart
8	chr6:79578600-79598200	Weak transcription	HUVEC	blood vessel
9	chr6:79578600-79604800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr6:79578600-79612400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr6:79578600-79618200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:79578800-79602800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:79578800-79608600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:79578800-79613800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:79582000-79608400	Weak transcription	Fetal Intestine Large	intestine
16	chr6:79584800-79608600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:79585200-79619600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr6:79585200-79620200	Weak transcription	Fetal Lung	lung
19	chr6:79587600-79607600	Weak transcription	Dnd41	blood
20	chr6:79587600-79611200	Weak transcription	Brain Anterior Caudate	brain
21	chr6:79587800-79608400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:79588000-79619800	Weak transcription	Fetal Brain Female	brain
23	chr6:79588200-79598600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:79588200-79602000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:79588200-79611800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:79588200-79611800	Weak transcription	Pancreas	Pancrea
27	chr6:79588200-79612000	Weak transcription	Fetal Stomach	stomach
28	chr6:79588200-79616400	Weak transcription	Primary T cells from cord blood	blood
29	chr6:79588600-79597800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:79589600-79600800	Weak transcription	Lung	lung
31	chr6:79589600-79618200	Weak transcription	Aorta	Aorta
32	chr6:79589600-79619800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:79589800-79620200	Weak transcription	Fetal Brain Male	brain
34	chr6:79592600-79620200	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr6:79595400-79598200	Weak transcription	Fetal Intestine Small	intestine
36	chr6:79595600-79599400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:79596000-79598000	Enhancers	Fetal Heart	heart
38	chr6:79596200-79598400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr6:79596200-79608600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:79596400-79599400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:79596600-79597400	Strong transcription	Ovary	ovary
42	chr6:79596800-79618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:79597000-79620000	Weak transcription	Fetal Kidney	kidney
44	chr6:79597200-79597400	Enhancers	Gastric	stomach
45	chr6:79597200-79598000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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