Variant report

Variant	rs74064764
Chromosome Location	chr14:81421787-81421788
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:81421763-81421813	HEK293	kidney:	embryo
2	chr14:81421770-81421820	HCF	heart:	n/a
3	chr14:81421770-81421820	SK-N-MC	brain:	n/a
4	chr14:81421770-81421820	T-47D	breast:	n/a
5	chr14:81421763-81421813	GM06990	blood:	n/a
6	chr14:81421763-81421813	SKMC	muscle:	n/a
7	chr14:81421763-81421813	K562	blood:	n/a
8	chr14:81421763-81421813	HCPEpiC	choroid plexus:	n/a
9	chr14:81421770-81421820	AG09319	gingival:	n/a
10	chr14:81421770-81421820	MCF10A-Er-Src	breast:	n/a
11	chr14:81421763-81421813	SK-N-MC	brain:	n/a
12	chr14:81421763-81421813	NHDF-neo	bronchial:	n/a
13	chr14:81421770-81421820	AG04450	lung:	fetal
14	chr14:81421763-81421813	HPAEpiC	pulmonary alveolar:	n/a
15	chr14:81421763-81421813	SAEC	small airway:	n/a
16	chr14:81421770-81421820	HAEpiC	amniotic membrane:	n/a
17	chr14:81421770-81421820	A549	lung:	n/a
18	chr14:81421770-81421820	HCT-116	colon:	n/a
19	chr14:81421763-81421813	HL-60	blood:	n/a
20	chr14:81421770-81421820	HIPEpiC	eye:	n/a
21	chr14:81421770-81421820	Caco-2	colon:	n/a
22	chr14:81421763-81421813	Hepatocyte	liver:	n/a
23	chr14:81421770-81421820	HRPEpiC	eye:	n/a
24	chr14:81421770-81421820	NHBE	bronchial:	n/a
25	chr14:81421770-81421820	HEEpiC	esophagus:	n/a
26	chr14:81421763-81421813	Jurkat	blood:	n/a
27	chr14:81421770-81421820	RPTEC	kidney:	n/a
28	chr14:81421770-81421820	LNCaP	prostate:	n/a
29	chr14:81421770-81421820	GM19239	blood:	n/a
30	chr14:81421763-81421813	PrEC	prostate:	n/a
31	chr14:81421770-81421820	K562	blood:	n/a
32	chr14:81421763-81421813	BJ	skin:	n/a
33	chr14:81421770-81421820	Hepatocyte	liver:	n/a
34	chr14:81421763-81421813	SK-N-SH_RA	brain:	n/a
35	chr14:81421763-81421813	HIPEpiC	eye:	n/a
36	chr14:81421770-81421820	MCF-7	breast:	n/a
37	chr14:81421770-81421820	PrEC	prostate:	n/a
38	chr14:81421763-81421813	ovcar-3	ovarian:	n/a
39	chr14:81421763-81421813	MCF-7	breast:	n/a
40	chr14:81421763-81421813	ECC-1	luminal epithelium:	n/a
41	chr14:81421763-81421813	BE2_C	brain:	n/a
42	chr14:81421770-81421820	NB4	blood:	n/a
43	chr14:81421763-81421813	GM19239	blood:	n/a
44	chr14:81421763-81421813	H1-hESC	embryonic stem cell:	embryo
45	chr14:81421763-81421813	HAEpiC	amniotic membrane:	n/a
46	chr14:81421763-81421813	SK-N-SH	brain:	n/a
47	chr14:81421770-81421820	PFSK-1	brain:	n/a
48	chr14:81421770-81421820	AG09309	skin:	n/a
49	chr14:81421763-81421813	AG10803	skin:	n/a
50	chr14:81421763-81421813	HUVEC	blood vessel:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:81421283..81423197-chr14:81423259..81426025,2	K562	blood:
2	chr14:81420793..81423189-chr14:81424553..81427836,4	MCF-7	breast:
3	chr14:81421307..81423560-chr14:81685821..81687772,2	MCF-7	breast:

No data

Variant related genes	Relation type
TSHR	CpG island
ENSG00000165417	Chromatin interaction
ENSG00000100629	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7156544	0.91[AFR][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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81421000-81421800	Active TSS	Fetal Kidney	kidney
2	chr14:81421000-81421800	Active TSS	K562	blood
3	chr14:81421000-81422000	Active TSS	NH-A	brain
4	chr14:81421000-81423400	Active TSS	Fetal Thymus	thymus
5	chr14:81421000-81426400	Active TSS	Thymus	Thymus
6	chr14:81421200-81421800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:81421200-81421800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr14:81421200-81421800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:81421200-81421800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr14:81421200-81421800	Active TSS	Primary hematopoietic stem cells	blood
11	chr14:81421200-81421800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr14:81421200-81421800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:81421200-81421800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:81421200-81421800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:81421200-81421800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:81421200-81421800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:81421200-81421800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:81421200-81421800	Active TSS	Brain Substantia Nigra	brain
19	chr14:81421200-81421800	Active TSS	Colonic Mucosa	Colon
20	chr14:81421200-81421800	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr14:81421200-81421800	Active TSS	Fetal Brain Female	brain
22	chr14:81421200-81421800	Bivalent/Poised TSS	Left Ventricle	heart
23	chr14:81421200-81421800	Active TSS	Ovary	ovary
24	chr14:81421200-81421800	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
25	chr14:81421200-81421800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr14:81421200-81421800	Active TSS	Right Atrium	heart
27	chr14:81421200-81421800	Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr14:81421200-81421800	Active TSS	Stomach Smooth Muscle	stomach
29	chr14:81421200-81421800	Active TSS	A549	lung
30	chr14:81421200-81421800	Bivalent/Poised TSS	HepG2	liver
31	chr14:81421200-81421800	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr14:81421200-81421800	Active TSS	NHDF-Ad	bronchial
33	chr14:81421200-81422000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr14:81421200-81422000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr14:81421200-81422000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr14:81421200-81422000	Active TSS	Brain Angular Gyrus	brain
37	chr14:81421200-81422000	Active TSS	Brain Anterior Caudate	brain
38	chr14:81421200-81422000	Active TSS	Colon Smooth Muscle	Colon
39	chr14:81421200-81422000	Active TSS	Placenta Amnion	Placenta Amnion
40	chr14:81421200-81422000	Active TSS	Psoas Muscle	Psoas
41	chr14:81421200-81422200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr14:81421200-81422200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr14:81421200-81422200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:81421200-81422200	Active TSS	Brain Cingulate Gyrus	brain
45	chr14:81421200-81422200	Active TSS	Brain Hippocampus Middle	brain
46	chr14:81421200-81422200	Active TSS	Dnd41	blood
47	chr14:81421200-81422200	Active TSS	HSMM	muscle
48	chr14:81421200-81422400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr14:81421200-81422400	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr14:81421200-81422400	Active TSS	Primary T killer naive cells fromperipheralblood	blood

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