Variant report

Variant	rs62392943
Chromosome Location	chr6:29602062-29602063
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29602034-29602084	HPAEpiC	pulmonary alveolar:	n/a
2	chr6:29602034-29602084	SAEC	small airway:	n/a
3	chr6:29602034-29602084	MCF10A-Er-Src	breast:	n/a
4	chr6:29602034-29602084	AG09309	skin:	n/a
5	chr6:29602034-29602084	NB4	blood:	n/a
6	chr6:29602034-29602084	AG04450	lung:	fetal
7	chr6:29602034-29602084	GM12891	blood:	n/a
8	chr6:29602034-29602084	GM19239	blood:	n/a
9	chr6:29602034-29602084	SK-N-SH_RA	brain:	n/a
10	chr6:29602034-29602084	NHDF-neo	bronchial:	n/a
11	chr6:29602034-29602084	NT2-D1	testis:	n/a
12	chr6:29602034-29602084	PANC-1	pancreas:	n/a
13	chr6:29602034-29602084	AG04449	skin:	fetal
14	chr6:29602034-29602084	GM06990	blood:	n/a
15	chr6:29602034-29602084	MCF-7	breast:	n/a
16	chr6:29602034-29602084	HCT-116	colon:	n/a
17	chr6:29602034-29602084	U87	brain:	n/a
18	chr6:29602034-29602084	A549	lung:	n/a
19	chr6:29602034-29602084	AoSMC	blood vessel:	n/a
20	chr6:29602034-29602084	HNPCEpiC	eye:	n/a
21	chr6:29602034-29602084	ovcar-3	ovarian:	n/a
22	chr6:29602034-29602084	LNCaP	prostate:	n/a
23	chr6:29602034-29602084	HEK293	kidney:	embryo
24	chr6:29602034-29602084	PrEC	prostate:	n/a
25	chr6:29602034-29602084	Hepatocyte	liver:	n/a
26	chr6:29602034-29602084	HRE	kidney:	n/a
27	chr6:29602034-29602084	HepG2	liver:	n/a
28	chr6:29602034-29602084	AG09319	gingival:	n/a
29	chr6:29602034-29602084	HUVEC	blood vessel:	n/a
30	chr6:29602034-29602084	HCF	heart:	n/a
31	chr6:29602034-29602084	BE2_C	brain:	n/a
32	chr6:29602034-29602084	NHBE	bronchial:	n/a
33	chr6:29602034-29602084	HIPEpiC	eye:	n/a
34	chr6:29602034-29602084	BJ	skin:	n/a
35	chr6:29602034-29602084	PFSK-1	brain:	n/a
36	chr6:29602034-29602084	RPTEC	kidney:	n/a
37	chr6:29602034-29602084	HCPEpiC	choroid plexus:	n/a
38	chr6:29602034-29602084	Jurkat	blood:	n/a
39	chr6:29602034-29602084	HRPEpiC	eye:	n/a
40	chr6:29602034-29602084	HL-60	blood:	n/a
41	chr6:29602034-29602084	CMK	blood:	n/a
42	chr6:29602034-29602084	Caco-2	colon:	n/a
43	chr6:29602034-29602084	HCM	heart:	n/a
44	chr6:29602034-29602084	SK-N-MC	brain:	n/a
45	chr6:29602034-29602084	SK-N-SH	brain:	n/a
46	chr6:29602034-29602084	Hela-S3	cervix:	n/a
47	chr6:29602034-29602084	NH-A	brain:	n/a
48	chr6:29602034-29602084	GM12878	blood:	n/a
49	chr6:29602034-29602084	SKMC	muscle:	n/a
50	chr6:29602034-29602084	HMEC	breast:	n/a

No data

Variant related genes	Relation type
GABBR1	CpG island

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs16895101	0.88[ASN][1000 genomes]
rs2057010	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2058325	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2058326	0.90[ASN][1000 genomes]
rs28359971	0.91[ASN][1000 genomes]
rs28359972	0.93[ASN][1000 genomes]
rs28749524	0.93[ASN][1000 genomes]
rs29219	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs29256	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs29266	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3025628	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3025642	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs362515	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs362517	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55701059	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55871431	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55888673	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55971964	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56020557	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56045105	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56106029	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56142919	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56155438	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56393713	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62392941	0.93[ASN][1000 genomes]
rs62392942	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62392944	0.92[EUR][1000 genomes]
rs62406580	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62406582	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62406583	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62406584	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72831507	1.00[EUR][1000 genomes];0.98[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	esv2758039	chr6:29469101-29672665	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	esv2759411	chr6:29469101-29672665	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv970100	chr6:29601673-29604881	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29597600-29602200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:29599000-29602400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr6:29599800-29602600	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr6:29600000-29602200	Active TSS	Fetal Brain Female	brain
5	chr6:29601200-29602200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:29601200-29602400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr6:29601200-29602600	Flanking Active TSS	GM12878-XiMat	blood
8	chr6:29601200-29602800	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr6:29601200-29603000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr6:29601400-29602200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:29601600-29602200	Enhancers	Primary T cells from cord blood	blood
12	chr6:29601600-29602200	Active TSS	Brain Germinal Matrix	brain
13	chr6:29601600-29602400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr6:29601600-29602400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr6:29601600-29602600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
16	chr6:29601600-29602600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:29601800-29602200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:29601800-29602200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:29601800-29602200	Enhancers	Fetal Muscle Trunk	muscle
20	chr6:29601800-29602200	Enhancers	Fetal Muscle Leg	muscle
21	chr6:29601800-29602400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:29601800-29602400	Enhancers	Adipose Nuclei	Adipose
23	chr6:29601800-29602400	Enhancers	Brain Cingulate Gyrus	brain
24	chr6:29601800-29602400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:29601800-29602400	Enhancers	K562	blood
26	chr6:29601800-29602600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:29601800-29602600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr6:29601800-29602600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr6:29601800-29602600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:29601800-29602600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:29601800-29602600	Enhancers	HMEC	breast
32	chr6:29601800-29603000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr6:29601800-29608600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr6:29602000-29602200	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr6:29602000-29602400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:29602000-29602400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr6:29602000-29602400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr6:29602000-29602400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:29602000-29602400	Enhancers	Fetal Brain Male	brain
40	chr6:29602000-29603000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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