Variant report

Variant	rs7493964
Chromosome Location	chr14:105943999-105944000
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr14:105943985-105944175	GM12878	blood:	n/a	chr14:105944084-105944098 chr14:105944070-105944084 chr14:105944118-105944132 chr14:105944036-105944050 chr14:105944103-105944117
2	STAT3	chr14:105943854-105944053	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr14:105943902-105944076	MCF-7	breast:	n/a	n/a
4	POLR2A	chr14:105943676-105944068	ECC-1	luminal epithelium:	n/a	n/a
5	EGR1	chr14:105943968-105944282	K562	blood:	n/a	chr14:105944084-105944098 chr14:105944070-105944084 chr14:105944118-105944132 chr14:105944036-105944050 chr14:105944103-105944117
6	POLR2A	chr14:105940741-105944076	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr14:105943810-105944213	H1-neurons	neurons:	n/a	n/a
8	EGR1	chr14:105943933-105944349	K562	blood:	n/a	chr14:105944084-105944098 chr14:105944070-105944084 chr14:105944118-105944132 chr14:105944036-105944050 chr14:105944103-105944117
9	POLR2A	chr14:105943736-105944348	HepG2	liver:	n/a	n/a
10	CHD2	chr14:105943872-105944057	Hela-S3	cervix:	n/a	n/a
11	RCOR1	chr14:105943851-105944059	HepG2	liver:	n/a	n/a
12	MYC	chr14:105943885-105944202	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr14:105943911-105944223	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr14:105940540-105944037	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr14:105941113-105944875	SK-N-MC	brain:	n/a	n/a
16	POLR2A	chr14:105943854-105944149	HL-60	blood:	n/a	n/a
17	POLR2A	chr14:105939663-105944227	ECC-1	luminal epithelium:	n/a	n/a
18	ELF1	chr14:105943732-105944042	GM12878	blood:	n/a	n/a
19	EGR1	chr14:105943980-105944190	GM12878	blood:	n/a	chr14:105944084-105944098 chr14:105944070-105944084 chr14:105944118-105944132 chr14:105944036-105944050 chr14:105944103-105944117
20	RCOR1	chr14:105943957-105944136	K562	blood:	n/a	n/a
21	MAZ	chr14:105943958-105944216	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105936257..105939120-chr14:105942234..105944097,2	K562	blood:
2	chr14:105942434..105944086-chr14:105990952..105992969,2	MCF-7	breast:

Variant related genes	Relation type
CRIP2	TF binding region
ENSG00000184986	Chromatin interaction
ENSG00000257270	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10138891	0.85[YRI][hapmap]
rs11160845	0.85[YRI][hapmap]
rs12323571	0.83[ASW][hapmap];0.86[YRI][hapmap]
rs3936032	0.80[YRI][hapmap]
rs4074000	0.88[ASW][hapmap]
rs4074001	0.82[ASW][hapmap]
rs4983414	0.88[ASW][hapmap];0.94[LWK][hapmap];0.81[MKK][hapmap];0.96[YRI][hapmap]
rs4983418	0.94[ASW][hapmap];0.85[LWK][hapmap];0.90[MKK][hapmap];0.93[YRI][hapmap]
rs4983423	0.83[ASW][hapmap];0.85[YRI][hapmap]
rs6576106	0.86[YRI][hapmap]
rs7493450	0.86[YRI][hapmap]
rs8005552	0.83[YRI][hapmap]
rs9743822	0.82[YRI][hapmap]

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:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105940000-105944000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:105940200-105944200	Active TSS	Right Atrium	heart
3	chr14:105941200-105944000	Flanking Active TSS	Pancreas	Pancrea
4	chr14:105941400-105944000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:105941400-105944000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr14:105941400-105944000	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr14:105941600-105944000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr14:105941600-105944000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:105941600-105944000	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr14:105941600-105944000	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr14:105941600-105944000	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr14:105941600-105944000	Flanking Active TSS	Esophagus	oesophagus
13	chr14:105941600-105944000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
14	chr14:105941600-105944000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
15	chr14:105941600-105944000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
16	chr14:105941600-105944000	Flanking Active TSS	HMEC	breast
17	chr14:105941800-105944000	Flanking Active TSS	Brain Angular Gyrus	brain
18	chr14:105941800-105944000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr14:105941800-105944000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:105941800-105944000	Flanking Active TSS	Fetal Brain Female	brain
21	chr14:105941800-105944000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr14:105941800-105944800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr14:105942000-105944000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr14:105942000-105944000	Flanking Bivalent TSS/Enh	Placenta	Placenta
25	chr14:105942000-105944000	Enhancers	Gastric	stomach
26	chr14:105942000-105944000	Flanking Active TSS	HUVEC	blood vessel
27	chr14:105942000-105944200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr14:105942000-105944600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:105942000-105947000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr14:105942000-105947000	Weak transcription	K562	blood
31	chr14:105942200-105944000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr14:105942200-105944600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr14:105942200-105945200	Enhancers	Primary B cells from cord blood	blood
34	chr14:105942400-105944400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr14:105942600-105944000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:105942600-105944000	Flanking Active TSS	Brain Germinal Matrix	brain
37	chr14:105942600-105944000	Flanking Active TSS	Lung	lung
38	chr14:105942600-105944000	Flanking Active TSS	HSMM	muscle
39	chr14:105942600-105944000	Flanking Active TSS	HSMMtube	muscle
40	chr14:105942600-105944200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr14:105942600-105944200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr14:105942600-105944600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
43	chr14:105942800-105944000	Flanking Active TSS	Fetal Lung	lung
44	chr14:105942800-105944000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
45	chr14:105942800-105944200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr14:105942800-105944200	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr14:105943000-105944000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
48	chr14:105943000-105944200	Enhancers	Primary T cells from cord blood	blood
49	chr14:105943000-105944400	Enhancers	Primary T helper cells PMA-I stimulated	--
50	chr14:105943000-105944800	Enhancers	Primary T killer memory cells from peripheral blood	blood

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