Variant report

Variant	rs75438822
Chromosome Location	chr6:29601745-29601746
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr6:29599777-29602043	H1-neurons	neurons:	n/a	chr6:29601089-29601102
2	POLR2A	chr6:29599663-29601899	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr6:29599885-29601775	H1-neurons	neurons:	n/a	n/a
4	MAZ	chr6:29598835-29601887	K562	blood:	n/a	chr6:29600301-29600311 chr6:29601521-29601531
5	JUND	chr6:29600153-29601852	K562	blood:	n/a	n/a
6	MAZ	chr6:29599759-29601808	IMR90	lung:	n/a	chr6:29600301-29600311 chr6:29601521-29601531
7	SIN3A	chr6:29599830-29601885	H1-hESC	embryonic stem cell:	n/a	chr6:29601213-29601222
8	POLR2A	chr6:29599810-29601940	H1-neurons	neurons:	n/a	n/a
9	RCOR1	chr6:29598543-29601805	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:29601705-29601755	AG09309	skin:	n/a
2	chr6:29601705-29601755	HCM	heart:	n/a
3	chr6:29601705-29601755	HEK293	kidney:	embryo
4	chr6:29601705-29601755	HPAEpiC	pulmonary alveolar:	n/a
5	chr6:29601705-29601755	GM06990	blood:	n/a
6	chr6:29601705-29601755	HCPEpiC	choroid plexus:	n/a
7	chr6:29601705-29601755	SK-N-SH_RA	brain:	n/a
8	chr6:29601705-29601755	ECC-1	luminal epithelium:	n/a
9	chr6:29601705-29601755	SK-N-MC	brain:	n/a
10	chr6:29601705-29601755	SK-N-SH	brain:	n/a
11	chr6:29601705-29601755	T-47D	breast:	n/a
12	chr6:29601705-29601755	MCF10A-Er-Src	breast:	n/a
13	chr6:29601705-29601755	BE2_C	brain:	n/a
14	chr6:29601705-29601755	GM12892	blood:	n/a
15	chr6:29601705-29601755	NHBE	bronchial:	n/a
16	chr6:29601705-29601755	HepG2	liver:	n/a
17	chr6:29601705-29601755	AG04449	skin:	fetal
18	chr6:29601705-29601755	HUVEC	blood vessel:	n/a
19	chr6:29601705-29601755	HRPEpiC	eye:	n/a
20	chr6:29601705-29601755	HAEpiC	amniotic membrane:	n/a
21	chr6:29601705-29601755	H1-hESC	embryonic stem cell:	embryo
22	chr6:29601705-29601755	IMR90	lung:	fetal
23	chr6:29601705-29601755	PFSK-1	brain:	n/a
24	chr6:29601705-29601755	Jurkat	blood:	n/a
25	chr6:29601705-29601755	U87	brain:	n/a
26	chr6:29601705-29601755	Hela-S3	cervix:	n/a
27	chr6:29601705-29601755	GM12878	blood:	n/a
28	chr6:29601705-29601755	K562	blood:	n/a
29	chr6:29601705-29601755	HNPCEpiC	eye:	n/a
30	chr6:29601705-29601755	HRCEpiC	kidney:	n/a
31	chr6:29601705-29601755	NT2-D1	testis:	n/a
32	chr6:29601705-29601755	NH-A	brain:	n/a
33	chr6:29601705-29601755	Hepatocyte	liver:	n/a
34	chr6:29601705-29601755	HIPEpiC	eye:	n/a
35	chr6:29601705-29601755	PANC-1	pancreas:	n/a
36	chr6:29601705-29601755	AG04450	lung:	fetal
37	chr6:29601705-29601755	PrEC	prostate:	n/a
38	chr6:29601705-29601755	RPTEC	kidney:	n/a
39	chr6:29601705-29601755	HCF	heart:	n/a
40	chr6:29601705-29601755	ovcar-3	ovarian:	n/a
41	chr6:29601705-29601755	BJ	skin:	n/a
42	chr6:29601705-29601755	HRE	kidney:	n/a
43	chr6:29601705-29601755	LNCaP	prostate:	n/a
44	chr6:29601705-29601755	SAEC	small airway:	n/a
45	chr6:29601705-29601755	HL-60	blood:	n/a
46	chr6:29601705-29601755	SKMC	muscle:	n/a
47	chr6:29601705-29601755	MCF-7	breast:	n/a
48	chr6:29601705-29601755	NB4	blood:	n/a
49	chr6:29601705-29601755	Caco-2	colon:	n/a
50	chr6:29601705-29601755	GM19239	blood:	n/a

No data

Variant related genes	Relation type
GABBR1	TF binding region
GABBR1	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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
4	esv3435776	chr6:29601730-29601778	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29597600-29602200	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr6:29598200-29602000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:29599000-29601800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:29599000-29601800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr6:29599000-29602400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr6:29599200-29601800	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:29599600-29601800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr6:29599600-29601800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:29599600-29601800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:29599600-29601800	Active TSS	NHLF	lung
11	chr6:29599800-29601800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:29599800-29601800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
13	chr6:29599800-29602600	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr6:29600000-29601800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:29600000-29601800	Active TSS	Muscle Satellite Cultured Cells	--
16	chr6:29600000-29601800	Active TSS	Colon Smooth Muscle	Colon
17	chr6:29600000-29601800	Active TSS	Duodenum Smooth Muscle	Duodenum
18	chr6:29600000-29601800	Active TSS	Fetal Kidney	kidney
19	chr6:29600000-29601800	Active TSS	Rectal Smooth Muscle	rectum
20	chr6:29600000-29601800	Active TSS	NHDF-Ad	bronchial
21	chr6:29600000-29602000	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr6:29600000-29602000	Active TSS	Brain Angular Gyrus	brain
23	chr6:29600000-29602200	Active TSS	Fetal Brain Female	brain
24	chr6:29600200-29601800	Active TSS	Esophagus	oesophagus
25	chr6:29600200-29601800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr6:29600200-29601800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr6:29600200-29602000	Active TSS	Stomach Smooth Muscle	stomach
28	chr6:29600400-29601800	Active TSS	Osteobl	bone
29	chr6:29600800-29601800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:29601000-29601800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
31	chr6:29601000-29601800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr6:29601000-29601800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr6:29601000-29601800	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr6:29601200-29601800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr6:29601200-29601800	Bivalent/Poised TSS	Primary hematopoietic stem cells short term culture	blood
36	chr6:29601200-29601800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr6:29601200-29601800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr6:29601200-29601800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:29601200-29601800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr6:29601200-29601800	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr6:29601200-29601800	Flanking Active TSS	K562	blood
42	chr6:29601200-29601800	Flanking Active TSS	NH-A	brain
43	chr6:29601200-29601800	Flanking Active TSS	NHEK	skin
44	chr6:29601200-29602000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
45	chr6:29601200-29602000	Flanking Active TSS	Fetal Brain Male	brain
46	chr6:29601200-29602200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:29601200-29602400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
48	chr6:29601200-29602600	Flanking Active TSS	GM12878-XiMat	blood
49	chr6:29601200-29602800	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr6:29601200-29603000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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