Variant report

Variant	rs56412384
Chromosome Location	chr6:134210600-134210601
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr6:134210007-134210779	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr6:134209984-134211441	H1-hESC	embryonic stem cell:	n/a	chr6:134211025-134211036
3	POLR2A	chr6:134210055-134213032	IMR90	lung:	n/a	n/a
4	RAD21	chr6:134210072-134211455	IMR90	lung:	n/a	chr6:134210401-134210415 chr6:134210400-134210414
5	CTBP2	chr6:134209939-134211424	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAZ	chr6:134209720-134211725	IMR90	lung:	n/a	chr6:134210035-134210045
7	YY1	chr6:134210252-134211185	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZNF143	chr6:134210078-134211124	H1-hESC	embryonic stem cell:	n/a	chr6:134210391-134210409 chr6:134211059-134211077
9	YY1	chr6:134210300-134210635	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr6:134209990-134211599	ProgFib	skin:	n/a	n/a
11	TEAD4	chr6:134210424-134210778	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr6:134210540-134210690	WI-38	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:134210598-134210648	GM12878	blood:	n/a
2	chr6:134210598-134210648	HL-60	blood:	n/a
3	chr6:134210598-134210648	HCM	heart:	n/a
4	chr6:134210598-134210648	GM12891	blood:	n/a
5	chr6:134210598-134210648	HCPEpiC	choroid plexus:	n/a
6	chr6:134210598-134210648	HEEpiC	esophagus:	n/a
7	chr6:134210598-134210648	NB4	blood:	n/a
8	chr6:134210598-134210648	T-47D	breast:	n/a
9	chr6:134210598-134210648	AG04449	skin:	fetal
10	chr6:134210598-134210648	IMR90	lung:	fetal
11	chr6:134210598-134210648	LNCaP	prostate:	n/a
12	chr6:134210598-134210648	Hela-S3	cervix:	n/a
13	chr6:134210598-134210648	BJ	skin:	n/a
14	chr6:134210598-134210648	HRCEpiC	kidney:	n/a
15	chr6:134210598-134210648	HRPEpiC	eye:	n/a
16	chr6:134210598-134210648	HUVEC	blood vessel:	n/a
17	chr6:134210598-134210648	Caco-2	colon:	n/a
18	chr6:134210598-134210648	U87	brain:	n/a
19	chr6:134210598-134210648	NH-A	brain:	n/a
20	chr6:134210598-134210648	HNPCEpiC	eye:	n/a
21	chr6:134210598-134210648	Hepatocyte	liver:	n/a
22	chr6:134210598-134210648	AG09319	gingival:	n/a
23	chr6:134210598-134210648	MCF-7	breast:	n/a
24	chr6:134210598-134210648	AoSMC	blood vessel:	n/a
25	chr6:134210598-134210648	HepG2	liver:	n/a
26	chr6:134210598-134210648	HAEpiC	amniotic membrane:	n/a
27	chr6:134210598-134210648	ProgFib	skin:	n/a
28	chr6:134210598-134210648	MCF10A-Er-Src	breast:	n/a
29	chr6:134210598-134210648	BE2_C	brain:	n/a
30	chr6:134210598-134210648	SK-N-MC	brain:	n/a
31	chr6:134210598-134210648	HIPEpiC	eye:	n/a
32	chr6:134210598-134210648	GM19239	blood:	n/a
33	chr6:134210598-134210648	HCF	heart:	n/a
34	chr6:134210598-134210648	HMEC	breast:	n/a
35	chr6:134210598-134210648	HPAEpiC	pulmonary alveolar:	n/a
36	chr6:134210598-134210648	ECC-1	luminal epithelium:	n/a
37	chr6:134210598-134210648	HRE	kidney:	n/a
38	chr6:134210598-134210648	SKMC	muscle:	n/a
39	chr6:134210598-134210648	AG10803	skin:	n/a
40	chr6:134210598-134210648	PFSK-1	brain:	n/a
41	chr6:134210598-134210648	H1-hESC	embryonic stem cell:	embryo
42	chr6:134210598-134210648	GM06990	blood:	n/a
43	chr6:134210598-134210648	Jurkat	blood:	n/a
44	chr6:134210598-134210648	K562	blood:	n/a
45	chr6:134210598-134210648	NHDF-neo	bronchial:	n/a
46	chr6:134210598-134210648	RPTEC	kidney:	n/a
47	chr6:134210598-134210648	HEK293	kidney:	embryo
48	chr6:134210598-134210648	NHBE	bronchial:	n/a
49	chr6:134210598-134210648	PANC-1	pancreas:	n/a
50	chr6:134210598-134210648	CMK	blood:	n/a

No data

Variant related genes	Relation type
ENSG00000227954	TF binding region
ENSG00000227954	CpG island

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1120399	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1120400	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1572425	0.80[AFR][1000 genomes]
rs2170868	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2327431	0.80[AFR][1000 genomes]
rs28683498	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895392	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4896010	1.00[ASN][1000 genomes]
rs56792618	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6925803	1.00[ASN][1000 genomes]
rs73548709	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73548735	1.00[ASN][1000 genomes]
rs73548761	1.00[ASN][1000 genomes]
rs73774135	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73776706	1.00[EUR][1000 genomes]
rs9483624	1.00[EUR][1000 genomes]
rs9493754	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34122	chr6:134089019-134378252	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134207600-134211400	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr6:134208800-134210600	Bivalent/Poised TSS	Fetal Brain Male	brain
3	chr6:134208800-134212000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
4	chr6:134209000-134210600	Active TSS	Right Atrium	heart
5	chr6:134209000-134210800	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
6	chr6:134209000-134212200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
7	chr6:134209200-134215200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
8	chr6:134209400-134211200	Bivalent/Poised TSS	Fetal Lung	lung
9	chr6:134209400-134212200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
10	chr6:134209400-134212400	Bivalent/Poised TSS	Colonic Mucosa	Colon
11	chr6:134209400-134214000	Active TSS	Ovary	ovary
12	chr6:134209600-134210600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr6:134209600-134210800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
14	chr6:134209600-134210800	Bivalent/Poised TSS	Fetal Intestine Small	intestine
15	chr6:134209600-134212000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
16	chr6:134209800-134210600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:134209800-134211400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr6:134209800-134211600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr6:134209800-134211600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
20	chr6:134209800-134213200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:134209800-134213200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr6:134210000-134210600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:134210000-134211000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr6:134210000-134211200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr6:134210000-134211200	Bivalent/Poised TSS	Osteobl	bone
26	chr6:134210000-134211400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:134210000-134211400	Flanking Bivalent TSS/Enh	NH-A	brain
28	chr6:134210000-134212000	Bivalent/Poised TSS	Fetal Kidney	kidney
29	chr6:134210000-134212200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
30	chr6:134210000-134212400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr6:134210000-134212400	Bivalent/Poised TSS	Placenta	Placenta
32	chr6:134210000-134213000	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
33	chr6:134210000-134213000	Bivalent/Poised TSS	Left Ventricle	heart
34	chr6:134210000-134213200	Bivalent/Poised TSS	Fetal Stomach	stomach
35	chr6:134210000-134214000	Active TSS	NHLF	lung
36	chr6:134210200-134210600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:134210200-134210800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:134210200-134210800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:134210200-134210800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:134210200-134210800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr6:134210200-134210800	Bivalent/Poised TSS	Esophagus	oesophagus
42	chr6:134210200-134210800	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr6:134210200-134210800	Active TSS	Pancreas	Pancrea
44	chr6:134210200-134210800	Enhancers	A549	lung
45	chr6:134210200-134211000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
46	chr6:134210200-134211000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr6:134210200-134211200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr6:134210200-134211200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
49	chr6:134210200-134211400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr6:134210200-134211400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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