Variant report

Variant	rs12664506
Chromosome Location	chr6:35992126-35992127
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr6:35992054-35992577	H1-hESC	embryonic stem cell:	n/a	n/a
2	SIN3A	chr6:35991758-35992651	H1-hESC	embryonic stem cell:	n/a	n/a
3	ZEB1	chr6:35992123-35992411	GM12878	blood:	n/a	chr6:35992274-35992283
4	TAF1	chr6:35992040-35992422	H1-hESC	embryonic stem cell:	n/a	n/a
5	ELF1	chr6:35992034-35992572	GM12878	blood:	n/a	n/a
6	EGR1	chr6:35992054-35992495	H1-hESC	embryonic stem cell:	n/a	chr6:35992290-35992304

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:35992082-35992132	SK-N-MC	brain:	n/a
2	chr6:35992082-35992132	MCF-7	breast:	n/a
3	chr6:35992082-35992132	HAEpiC	amniotic membrane:	n/a
4	chr6:35992082-35992132	HCM	heart:	n/a
5	chr6:35992082-35992132	NT2-D1	testis:	n/a
6	chr6:35992082-35992132	SKMC	muscle:	n/a
7	chr6:35992082-35992132	ovcar-3	ovarian:	n/a
8	chr6:35992082-35992132	HUVEC	blood vessel:	n/a
9	chr6:35992082-35992132	SK-N-SH	brain:	n/a
10	chr6:35992082-35992132	NB4	blood:	n/a
11	chr6:35992082-35992132	BJ	skin:	n/a
12	chr6:35992082-35992132	GM12891	blood:	n/a
13	chr6:35992082-35992132	RPTEC	kidney:	n/a
14	chr6:35992082-35992132	PFSK-1	brain:	n/a
15	chr6:35992082-35992132	H1-hESC	embryonic stem cell:	embryo
16	chr6:35992082-35992132	SK-N-SH_RA	brain:	n/a
17	chr6:35992082-35992132	HCPEpiC	choroid plexus:	n/a
18	chr6:35992082-35992132	SAEC	small airway:	n/a
19	chr6:35992082-35992132	HRPEpiC	eye:	n/a
20	chr6:35992082-35992132	AG09309	skin:	n/a
21	chr6:35992082-35992132	AG04450	lung:	fetal
22	chr6:35992082-35992132	HEEpiC	esophagus:	n/a
23	chr6:35992082-35992132	GM06990	blood:	n/a
24	chr6:35992082-35992132	Hela-S3	cervix:	n/a
25	chr6:35992082-35992132	HCT-116	colon:	n/a
26	chr6:35992082-35992132	HRE	kidney:	n/a
27	chr6:35992082-35992132	HMEC	breast:	n/a
28	chr6:35992082-35992132	AG10803	skin:	n/a
29	chr6:35992082-35992132	ECC-1	luminal epithelium:	n/a
30	chr6:35992082-35992132	NH-A	brain:	n/a
31	chr6:35992082-35992132	HepG2	liver:	n/a
32	chr6:35992082-35992132	HL-60	blood:	n/a
33	chr6:35992082-35992132	NHDF-neo	bronchial:	n/a
34	chr6:35992082-35992132	HRCEpiC	kidney:	n/a
35	chr6:35992082-35992132	LNCaP	prostate:	n/a
36	chr6:35992082-35992132	PrEC	prostate:	n/a
37	chr6:35992082-35992132	Caco-2	colon:	n/a
38	chr6:35992082-35992132	HPAEpiC	pulmonary alveolar:	n/a
39	chr6:35992082-35992132	HNPCEpiC	eye:	n/a
40	chr6:35992082-35992132	Jurkat	blood:	n/a
41	chr6:35992082-35992132	Hepatocyte	liver:	n/a
42	chr6:35992082-35992132	GM19239	blood:	n/a
43	chr6:35992082-35992132	MCF10A-Er-Src	breast:	n/a
44	chr6:35992082-35992132	AG04449	skin:	fetal
45	chr6:35992082-35992132	T-47D	breast:	n/a
46	chr6:35992082-35992132	AoSMC	blood vessel:	n/a
47	chr6:35992082-35992132	PANC-1	pancreas:	n/a
48	chr6:35992082-35992132	AG09319	gingival:	n/a
49	chr6:35992082-35992132	IMR90	lung:	fetal
50	chr6:35992082-35992132	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:35958044..35960886-chr6:35991621..35993771,2	K562	blood:
2	chr6:35991723..36001946-chr6:36059635..36067870,13	K562	blood:

No data

Variant related genes	Relation type
MAPK14	TF binding region
MAPK14	CpG island
ENSG00000271304	Chromatin interaction
ENSG00000237719	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10947585	0.87[ASN][1000 genomes]
rs10947588	0.85[ASN][1000 genomes]
rs11755358	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11759192	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12111171	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12662129	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12664488	0.87[ASN][1000 genomes]
rs12665389	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17707331	0.85[ASN][1000 genomes]
rs17713154	0.87[ASN][1000 genomes]
rs17714205	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3730326	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3804452	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv528432	chr6:35958871-36035354	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35991600-35992200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:35991600-35992200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:35991600-35992200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:35991600-35992200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
5	chr6:35991600-35992600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr6:35991600-35992800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:35991600-35992800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr6:35991600-35992800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr6:35991600-35992800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:35991600-35993400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr6:35991800-35992200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:35991800-35992200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr6:35991800-35992200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:35991800-35992200	Enhancers	Thymus	Thymus
15	chr6:35991800-35992400	Enhancers	Placenta	Placenta
16	chr6:35991800-35992400	Enhancers	Right Atrium	heart
17	chr6:35991800-35992600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
18	chr6:35991800-35992600	Active TSS	H9 Cell Line	embryonic stem cell
19	chr6:35991800-35992600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:35991800-35992600	Active TSS	Brain Angular Gyrus	brain
21	chr6:35991800-35992600	Bivalent Enhancer	Fetal Brain Male	brain
22	chr6:35991800-35992800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr6:35991800-35992800	Active TSS	Brain Anterior Caudate	brain
24	chr6:35991800-35992800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr6:35992000-35992200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr6:35992000-35992200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
27	chr6:35992000-35992200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:35992000-35992200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr6:35992000-35992200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:35992000-35992200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr6:35992000-35992200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr6:35992000-35992200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr6:35992000-35992200	Active TSS	Colonic Mucosa	Colon
34	chr6:35992000-35992200	Enhancers	Fetal Heart	heart
35	chr6:35992000-35992200	Flanking Active TSS	Fetal Intestine Large	intestine
36	chr6:35992000-35992200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
37	chr6:35992000-35992200	Flanking Active TSS	Fetal Thymus	thymus
38	chr6:35992000-35992200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr6:35992000-35992400	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr6:35992000-35992400	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr6:35992000-35992400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
42	chr6:35992000-35992400	Enhancers	Primary T cells from cord blood	blood
43	chr6:35992000-35992400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:35992000-35992400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:35992000-35992400	Active TSS	Duodenum Mucosa	Duodenum
46	chr6:35992000-35992400	Enhancers	Esophagus	oesophagus
47	chr6:35992000-35992400	Enhancers	Lung	lung
48	chr6:35992000-35992400	Flanking Active TSS	HMEC	breast
49	chr6:35992000-35992400	Bivalent/Poised TSS	NH-A	brain
50	chr6:35992000-35992400	Enhancers	NHEK	skin

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