Variant report

Variant	rs62415914
Chromosome Location	chr6:114279621-114279622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr6:114279561-114279676	K562	blood:	n/a	n/a

Variant related genes	Relation type
HDAC2	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17792118	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2169506	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35598148	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62415876	0.87[ASN][1000 genomes]
rs62415904	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62415906	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62415909	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62415915	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs62415916	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62415923	1.00[ASN][1000 genomes]
rs73548638	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744487	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7748936	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9488293	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9488294	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021774	chr6:114063971-114407280	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv538422	chr6:114063971-114407280	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv3363275	chr6:114101331-114302866	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114253000-114289800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:114253400-114290600	Weak transcription	Aorta	Aorta
3	chr6:114254600-114281800	Strong transcription	Dnd41	blood
4	chr6:114255400-114281600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:114258600-114282600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr6:114258600-114291000	Weak transcription	Lung	lung
7	chr6:114258800-114281000	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:114258800-114281600	Weak transcription	Gastric	stomach
9	chr6:114258800-114285600	Weak transcription	Right Ventricle	heart
10	chr6:114258800-114289800	Weak transcription	Spleen	Spleen
11	chr6:114259000-114289200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr6:114259400-114279800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr6:114259400-114281400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:114259600-114281000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:114259800-114280000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:114259800-114280600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr6:114259800-114280600	Strong transcription	Fetal Thymus	thymus
18	chr6:114259800-114280800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr6:114259800-114280800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:114259800-114281000	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr6:114260000-114280400	Strong transcription	Primary B cells from peripheral blood	blood
22	chr6:114264800-114289800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:114265200-114280800	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:114265600-114282000	Weak transcription	Brain Substantia Nigra	brain
25	chr6:114266000-114283800	Weak transcription	Colonic Mucosa	Colon
26	chr6:114266000-114289600	Weak transcription	Esophagus	oesophagus
27	chr6:114266200-114285600	Weak transcription	Psoas Muscle	Psoas
28	chr6:114266400-114285600	Weak transcription	Small Intestine	intestine
29	chr6:114266400-114289800	Weak transcription	Pancreas	Pancrea
30	chr6:114267400-114280400	Weak transcription	Fetal Heart	heart
31	chr6:114267400-114281400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr6:114267400-114281600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:114267400-114282200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr6:114267400-114286200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr6:114267400-114287200	Weak transcription	Fetal Brain Male	brain
36	chr6:114267400-114288800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:114267400-114289000	Weak transcription	Brain Angular Gyrus	brain
38	chr6:114267400-114289200	Weak transcription	Ovary	ovary
39	chr6:114267400-114289800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:114268000-114280600	Strong transcription	Primary B cells from cord blood	blood
41	chr6:114268200-114280800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr6:114269200-114279800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr6:114269200-114279800	Strong transcription	Duodenum Mucosa	Duodenum
44	chr6:114270400-114280400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr6:114270400-114289800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:114272800-114281400	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:114273200-114279800	Strong transcription	Primary hematopoietic stem cells	blood
48	chr6:114273200-114280400	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr6:114273600-114289200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr6:114274000-114280400	Strong transcription	K562	blood

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