Variant report

Variant	rs41286216
Chromosome Location	chr6:134214309-134214310
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr6:134214307-134214575	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr6:134214260-134214410	HBMEC	blood vessel:	n/a	n/a
3	POLR2A	chr6:134211768-134214546	H1-neurons	neurons:	n/a	n/a
4	CTCF	chr6:134214260-134214410	HCPEpiC	choroid plexus:	n/a	n/a
5	CTCF	chr6:134214240-134214390	BE2_C	brain:	n/a	n/a
6	CTCF	chr6:134214240-134214390	SK-N-SH_RA	brain:	n/a	n/a
7	POLR2A	chr6:134211788-134215010	H1-neurons	neurons:	n/a	n/a
8	CTCF	chr6:134214260-134214410	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr6:134214280-134214430	AG04450	lung:	n/a	n/a
10	CTCF	chr6:134214260-134214410	HPF	lung:	n/a	n/a
11	CTCF	chr6:134214240-134214390	HA-sp	spinal cord:	n/a	n/a
12	SUZ12	chr6:134213672-134214798	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr6:134214300-134214450	HCM	heart:	n/a	n/a
14	CTCF	chr6:134214160-134214310	GM12871	blood:	n/a	n/a
15	GATA2	chr6:134213808-134214367	SH-SY5Y	brain:	n/a	n/a
16	SUZ12	chr6:134213542-134214999	NT2-D1	testis:	n/a	n/a
17	CTCF	chr6:134214240-134214390	HCFaa	heart:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:134214307-134214357	NB4	blood:	n/a
2	chr6:134214307-134214357	ProgFib	skin:	n/a
3	chr6:134214307-134214357	HL-60	blood:	n/a
4	chr6:134214307-134214357	ovcar-3	ovarian:	n/a
5	chr6:134214307-134214357	HCPEpiC	choroid plexus:	n/a
6	chr6:134214307-134214357	HUVEC	blood vessel:	n/a
7	chr6:134214307-134214357	HCM	heart:	n/a
8	chr6:134214307-134214357	BJ	skin:	n/a
9	chr6:134214307-134214357	LNCaP	prostate:	n/a
10	chr6:134214307-134214357	NHDF-neo	bronchial:	n/a
11	chr6:134214307-134214357	PANC-1	pancreas:	n/a
12	chr6:134214307-134214357	BE2_C	brain:	n/a
13	chr6:134214307-134214357	GM06990	blood:	n/a
14	chr6:134214307-134214357	CMK	blood:	n/a
15	chr6:134214307-134214357	SK-N-SH_RA	brain:	n/a
16	chr6:134214307-134214357	HAEpiC	amniotic membrane:	n/a
17	chr6:134214307-134214357	IMR90	lung:	fetal
18	chr6:134214307-134214357	MCF10A-Er-Src	breast:	n/a
19	chr6:134214307-134214357	GM12891	blood:	n/a
20	chr6:134214307-134214357	NH-A	brain:	n/a
21	chr6:134214307-134214357	PFSK-1	brain:	n/a
22	chr6:134214307-134214357	HepG2	liver:	n/a
23	chr6:134214307-134214357	SK-N-MC	brain:	n/a
24	chr6:134214307-134214357	GM12892	blood:	n/a
25	chr6:134214307-134214357	HCT-116	colon:	n/a
26	chr6:134214307-134214357	HRPEpiC	eye:	n/a
27	chr6:134214307-134214357	K562	blood:	n/a
28	chr6:134214307-134214357	NHBE	bronchial:	n/a
29	chr6:134214307-134214357	HNPCEpiC	eye:	n/a
30	chr6:134214307-134214357	HPAEpiC	pulmonary alveolar:	n/a
31	chr6:134214307-134214357	Caco-2	colon:	n/a
32	chr6:134214307-134214357	U87	brain:	n/a
33	chr6:134214307-134214357	SK-N-SH	brain:	n/a
34	chr6:134214307-134214357	Hepatocyte	liver:	n/a
35	chr6:134214307-134214357	AG09309	skin:	n/a
36	chr6:134214307-134214357	AG10803	skin:	n/a
37	chr6:134214307-134214357	AG04450	lung:	fetal
38	chr6:134214307-134214357	HRE	kidney:	n/a
39	chr6:134214307-134214357	NT2-D1	testis:	n/a
40	chr6:134214307-134214357	T-47D	breast:	n/a
41	chr6:134214307-134214357	ECC-1	luminal epithelium:	n/a
42	chr6:134214307-134214357	A549	lung:	n/a
43	chr6:134214307-134214357	SKMC	muscle:	n/a
44	chr6:134214307-134214357	HMEC	breast:	n/a
45	chr6:134214307-134214357	AoSMC	blood vessel:	n/a
46	chr6:134214307-134214357	HEEpiC	esophagus:	n/a
47	chr6:134214307-134214357	Hela-S3	cervix:	n/a
48	chr6:134214307-134214357	Jurkat	blood:	n/a
49	chr6:134214307-134214357	GM12878	blood:	n/a
50	chr6:134214307-134214357	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:134201468..134203267-chr6:134213845..134216658,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCF21-2	chr6:134214028-134214631	NONHSAT115006

No data

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

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11751744	1.00[ASN][1000 genomes]
rs11757968	1.00[ASN][1000 genomes]
rs1208227	1.00[ASN][1000 genomes]
rs1208228	1.00[ASN][1000 genomes]
rs1208234	1.00[ASN][1000 genomes]
rs1208235	1.00[ASN][1000 genomes]
rs1208237	1.00[ASN][1000 genomes]
rs1208239	1.00[ASN][1000 genomes]
rs1208242	1.00[ASN][1000 genomes]
rs1208244	1.00[ASN][1000 genomes]
rs1208246	1.00[ASN][1000 genomes]
rs1208247	1.00[ASN][1000 genomes]
rs1208251	1.00[ASN][1000 genomes]
rs1208252	1.00[ASN][1000 genomes]
rs1208253	1.00[ASN][1000 genomes]
rs1208260	1.00[ASN][1000 genomes]
rs1208265	1.00[ASN][1000 genomes]
rs1208267	1.00[ASN][1000 genomes]
rs1208268	1.00[ASN][1000 genomes]
rs1208282	1.00[ASN][1000 genomes]
rs1575446	1.00[ASN][1000 genomes]
rs1613895	1.00[ASN][1000 genomes]
rs1616030	1.00[ASN][1000 genomes]
rs1746011	1.00[ASN][1000 genomes]
rs1746012	1.00[ASN][1000 genomes]
rs1746015	1.00[ASN][1000 genomes]
rs17481786	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1763937	1.00[ASN][1000 genomes]
rs1763941	1.00[ASN][1000 genomes]
rs1763944	1.00[ASN][1000 genomes]
rs1763945	1.00[ASN][1000 genomes]
rs2104261	1.00[ASN][1000 genomes]
rs41286218	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4518518	1.00[ASN][1000 genomes]
rs4610586	1.00[ASN][1000 genomes]
rs6899948	1.00[ASN][1000 genomes]
rs6900251	1.00[ASN][1000 genomes]
rs6915061	1.00[ASN][1000 genomes]
rs6919282	1.00[ASN][1000 genomes]
rs6920657	1.00[ASN][1000 genomes]
rs716050	1.00[ASN][1000 genomes]
rs9321418	1.00[ASN][1000 genomes]
rs9321419	1.00[ASN][1000 genomes]
rs942130	1.00[ASN][1000 genomes]
rs942132	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:134209200-134215200	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
2	chr6:134211200-134214400	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
3	chr6:134212200-134214800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:134212200-134215000	Bivalent/Poised TSS	Fetal Kidney	kidney
5	chr6:134212400-134214400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr6:134212600-134214400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
7	chr6:134212600-134214400	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
8	chr6:134212600-134214600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
9	chr6:134212600-134214600	Bivalent/Poised TSS	Colonic Mucosa	Colon
10	chr6:134212600-134214600	Bivalent/Poised TSS	Fetal Lung	lung
11	chr6:134212800-134214400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
12	chr6:134212800-134215400	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
13	chr6:134212800-134217000	Active TSS	Right Atrium	heart
14	chr6:134213000-134215400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
15	chr6:134213200-134214600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr6:134213200-134215800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
17	chr6:134213200-134216200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr6:134213600-134214400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr6:134213600-134214400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:134213600-134214600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr6:134213600-134214600	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr6:134213600-134214800	Enhancers	Pancreas	Pancrea
23	chr6:134213600-134215400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
24	chr6:134213600-134216600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
25	chr6:134213800-134214400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr6:134213800-134214400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr6:134213800-134214400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr6:134213800-134214400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr6:134213800-134214400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
30	chr6:134213800-134214400	Bivalent Enhancer	Fetal Brain Male	brain
31	chr6:134213800-134214400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
32	chr6:134213800-134214400	Flanking Bivalent TSS/Enh	Placenta	Placenta
33	chr6:134213800-134214400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
34	chr6:134213800-134214600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
35	chr6:134213800-134214600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
36	chr6:134213800-134214600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
37	chr6:134213800-134214800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr6:134213800-134215000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
39	chr6:134213800-134215600	Weak transcription	A549	lung
40	chr6:134214000-134214400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
41	chr6:134214000-134214400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr6:134214000-134214400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr6:134214000-134214400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr6:134214000-134214400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
45	chr6:134214000-134214400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr6:134214000-134214400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:134214000-134214400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
48	chr6:134214000-134214400	Flanking Active TSS	Gastric	stomach
49	chr6:134214000-134214400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
50	chr6:134214000-134214400	Bivalent Enhancer	Stomach Mucosa	stomach

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