Variant report

Variant	rs2267634
Chromosome Location	chr6:29582212-29582213
allele	C/G
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:6)
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	chr6:29582192-29582242	ECC-1	luminal epithelium:	n/a
2	chr6:29582192-29582242	PrEC	prostate:	n/a
3	chr6:29582192-29582242	AG10803	skin:	n/a
4	chr6:29582192-29582242	CMK	blood:	n/a
5	chr6:29582192-29582242	MCF-7	breast:	n/a
6	chr6:29582192-29582242	K562	blood:	n/a
7	chr6:29582192-29582242	HEEpiC	esophagus:	n/a
8	chr6:29582192-29582242	HCM	heart:	n/a
9	chr6:29582192-29582242	T-47D	breast:	n/a
10	chr6:29582192-29582242	HRCEpiC	kidney:	n/a
11	chr6:29582192-29582242	GM12878	blood:	n/a
12	chr6:29582192-29582242	AG04450	lung:	fetal
13	chr6:29582192-29582242	BE2_C	brain:	n/a
14	chr6:29582192-29582242	NHDF-neo	bronchial:	n/a
15	chr6:29582192-29582242	ProgFib	skin:	n/a
16	chr6:29582192-29582242	PFSK-1	brain:	n/a
17	chr6:29582192-29582242	SK-N-SH	brain:	n/a
18	chr6:29582192-29582242	HCT-116	colon:	n/a
19	chr6:29582192-29582242	NH-A	brain:	n/a
20	chr6:29582192-29582242	H1-hESC	embryonic stem cell:	embryo
21	chr6:29582192-29582242	GM19239	blood:	n/a
22	chr6:29582192-29582242	HIPEpiC	eye:	n/a
23	chr6:29582192-29582242	AG04449	skin:	fetal
24	chr6:29582192-29582242	HepG2	liver:	n/a
25	chr6:29582192-29582242	HRE	kidney:	n/a
26	chr6:29582192-29582242	U87	brain:	n/a
27	chr6:29582192-29582242	MCF10A-Er-Src	breast:	n/a
28	chr6:29582192-29582242	AG09309	skin:	n/a
29	chr6:29582192-29582242	AoSMC	blood vessel:	n/a
30	chr6:29582192-29582242	HL-60	blood:	n/a
31	chr6:29582192-29582242	SK-N-SH_RA	brain:	n/a
32	chr6:29582192-29582242	A549	lung:	n/a
33	chr6:29582192-29582242	ovcar-3	ovarian:	n/a
34	chr6:29582192-29582242	HAEpiC	amniotic membrane:	n/a
35	chr6:29582192-29582242	HRPEpiC	eye:	n/a
36	chr6:29582192-29582242	BJ	skin:	n/a
37	chr6:29582192-29582242	NB4	blood:	n/a
38	chr6:29582192-29582242	HMEC	breast:	n/a
39	chr6:29582192-29582242	Jurkat	blood:	n/a
40	chr6:29582192-29582242	RPTEC	kidney:	n/a
41	chr6:29582192-29582242	SKMC	muscle:	n/a
42	chr6:29582192-29582242	NT2-D1	testis:	n/a
43	chr6:29582192-29582242	GM12891	blood:	n/a
44	chr6:29582192-29582242	SAEC	small airway:	n/a
45	chr6:29582192-29582242	HCF	heart:	n/a
46	chr6:29582192-29582242	HUVEC	blood vessel:	n/a
47	chr6:29582192-29582242	HEK293	kidney:	embryo
48	chr6:29582192-29582242	HCPEpiC	choroid plexus:	n/a
49	chr6:29582192-29582242	LNCaP	prostate:	n/a
50	chr6:29582192-29582242	Caco-2	colon:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:29571256..29575251-chr6:29575309..29583536,9	K562	blood:
2	chr6:29581580..29583607-chr6:29588626..29591025,2	K562	blood:
3	chr6:29581672..29583351-chr6:29584179..29587675,3	K562	blood:
4	chr6:29578000..29583607-chr6:29584816..29592316,14	K562	blood:
5	chr6:29573160..29575251-chr6:29581192..29583536,2	K562	blood:
6	chr6:29579403..29583874-chr6:29593619..29596165,4	K562	blood:

No data

Variant related genes	Relation type
GABBR1	CpG island
ENSG00000204681	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17184388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17218739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2076482	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs28359990	0.89[ASN][1000 genomes]
rs28359991	0.89[ASN][1000 genomes]
rs3025640	0.89[ASN][1000 genomes]
rs55650674	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55662018	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61744969	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61997184	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9258000	0.92[ASN][1000 genomes]
rs9258033	0.92[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	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	nsv528285	chr6:29566842-29588146	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv462671	chr6:29566842-29588146	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv601229	chr6:29566842-29588146	Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:29566400-29595200	Weak transcription	Right Atrium	heart
2	chr6:29566600-29587000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr6:29566800-29584600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:29566800-29590000	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr6:29566800-29590600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr6:29567000-29589800	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:29567200-29589400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:29567200-29589800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr6:29567600-29583800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:29567600-29592400	Strong transcription	Fetal Stomach	stomach
11	chr6:29567600-29595400	Weak transcription	A549	lung
12	chr6:29567800-29582800	Strong transcription	Ovary	ovary
13	chr6:29567800-29584600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr6:29568400-29582600	Strong transcription	HMEC	breast
15	chr6:29568400-29583600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr6:29568600-29595200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:29568800-29583200	Strong transcription	NHEK	skin
18	chr6:29569000-29582600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr6:29569000-29582800	Strong transcription	Osteobl	bone
20	chr6:29569000-29584600	Strong transcription	Spleen	Spleen
21	chr6:29569000-29592400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:29569200-29582800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:29569200-29592200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:29569400-29582400	Strong transcription	Fetal Lung	lung
25	chr6:29569400-29592000	Strong transcription	Stomach Smooth Muscle	stomach
26	chr6:29569400-29595600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr6:29569600-29582400	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:29569800-29583000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:29569800-29583200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr6:29570000-29582600	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr6:29570200-29582600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:29570800-29589600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr6:29571000-29582400	Strong transcription	K562	blood
34	chr6:29571400-29583200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:29571400-29584400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr6:29571600-29582800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:29571600-29589800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:29571800-29582400	Strong transcription	Left Ventricle	heart
39	chr6:29572000-29583200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr6:29572000-29590000	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr6:29572200-29588800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr6:29572200-29595600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr6:29572400-29582600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:29572400-29592000	Strong transcription	Fetal Brain Female	brain
45	chr6:29572400-29593000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:29572600-29582400	Strong transcription	NH-A	brain
47	chr6:29572600-29583000	Strong transcription	Brain Germinal Matrix	brain
48	chr6:29572800-29586000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:29573000-29591000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr6:29574400-29595400	Weak transcription	Rectal Mucosa Donor 29	rectum

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