Variant report

Variant	rs73362069
Chromosome Location	chr14:105951537-105951538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:105950189-105952553	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:105951443-105951720	MCF-7	breast:	n/a	n/a
3	POLR2A	chr14:105951366-105951711	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr14:105950651-105951769	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr14:105951461-105951567	A549	lung:	n/a	n/a
6	POLR2A	chr14:105950383-105951618	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:105945578-105951699	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr14:105951334-105951686	Raji	blood:	n/a	n/a
9	ZBTB7A	chr14:105951047-105951711	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr14:105951377-105951632	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:105883580..105888149-chr14:105947638..105952467,6	MCF-7	breast:
2	chr14:105950410..105961012-chr14:105989009..105997120,20	MCF-7	breast:
3	chr14:105950525..105959761-chr14:105989345..105997494,25	MCF-7	breast:

No data

Variant related genes	Relation type
C14orf80	TF binding region
ENSG00000257341	TF binding region
CRIP1	TF binding region
ENSG00000182979	Chromatin interaction
ENSG00000251602	Chromatin interaction
ENSG00000184986	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10135326	0.85[AMR][1000 genomes]
rs10138891	1.00[AMR][1000 genomes]
rs11160845	1.00[AMR][1000 genomes]
rs12323571	1.00[AMR][1000 genomes]
rs13707	0.93[AMR][1000 genomes]
rs4983412	0.93[AMR][1000 genomes]
rs4983414	0.93[AMR][1000 genomes]
rs4983418	0.93[AMR][1000 genomes]
rs4983419	0.93[AMR][1000 genomes]
rs4983422	1.00[AMR][1000 genomes]
rs4983423	1.00[AMR][1000 genomes]
rs7140395	1.00[AMR][1000 genomes]
rs7158977	1.00[AMR][1000 genomes]
rs7160858	0.82[AMR][1000 genomes]
rs7492892	0.93[AMR][1000 genomes]
rs7493450	0.93[AMR][1000 genomes]
rs8005552	0.86[AMR][1000 genomes]
rs8012089	1.00[AMR][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	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105946800-105955200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:105947000-105952400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:105947000-105955200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:105947200-105953400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr14:105947400-105953600	Enhancers	Lung	lung
6	chr14:105948000-105951600	Enhancers	HSMM	muscle
7	chr14:105948000-105952400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:105948000-105952600	Enhancers	Primary B cells from peripheral blood	blood
9	chr14:105948000-105952800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:105948000-105953000	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr14:105948000-105953000	Bivalent Enhancer	Fetal Thymus	thymus
12	chr14:105948000-105953200	Enhancers	Left Ventricle	heart
13	chr14:105948000-105953200	Enhancers	Right Ventricle	heart
14	chr14:105948000-105953400	Enhancers	Esophagus	oesophagus
15	chr14:105948000-105954200	Enhancers	Fetal Heart	heart
16	chr14:105948000-105954400	Enhancers	Spleen	Spleen
17	chr14:105948200-105952800	Enhancers	Right Atrium	heart
18	chr14:105948400-105952400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:105948400-105952400	Enhancers	Fetal Intestine Small	intestine
20	chr14:105948400-105953000	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr14:105948400-105953200	Bivalent Enhancer	Fetal Stomach	stomach
22	chr14:105948400-105953600	Enhancers	Primary B cells from cord blood	blood
23	chr14:105948600-105952600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr14:105948600-105952800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
25	chr14:105948800-105951800	Enhancers	Placenta	Placenta
26	chr14:105948800-105952000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:105948800-105952200	Enhancers	Colon Smooth Muscle	Colon
28	chr14:105948800-105952400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:105948800-105952400	Enhancers	Duodenum Mucosa	Duodenum
30	chr14:105948800-105952400	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr14:105948800-105952600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:105948800-105952600	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr14:105948800-105952800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
34	chr14:105948800-105952800	Enhancers	Primary T cells from cord blood	blood
35	chr14:105948800-105953000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr14:105948800-105953200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr14:105949000-105951800	Weak transcription	K562	blood
38	chr14:105949000-105952000	Weak transcription	GM12878-XiMat	blood
39	chr14:105949000-105952200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr14:105949000-105952400	Enhancers	Primary T cells fromperipheralblood	blood
41	chr14:105949000-105952400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:105949000-105952800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr14:105949000-105953000	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr14:105949000-105953600	Weak transcription	Ovary	ovary
45	chr14:105949200-105952200	Weak transcription	NH-A	brain
46	chr14:105949200-105952400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr14:105949200-105952600	Enhancers	Stomach Mucosa	stomach
48	chr14:105949200-105952800	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr14:105949200-105952800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
50	chr14:105949200-105952800	Enhancers	A549	lung

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