Variant report

Variant	rs7154518
Chromosome Location	chr14:65222549-65222550
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65221170..65226335-chr14:65227109..65232798,8	MCF-7	breast:
2	chr14:65221708..65223520-chr14:65425560..65427904,2	MCF-7	breast:
3	chr14:65221435..65224079-chr19:50143616..50145558,2	MCF-7	breast:
4	chr14:65201615..65203157-chr14:65220105..65223085,2	K562	blood:
5	chr14:65168373..65176902-chr14:65220182..65231670,21	MCF-7	breast:
6	chr14:65168335..65178043-chr14:65220677..65234710,31	MCF-7	breast:
7	chr14:65212266..65214655-chr14:65220230..65222860,3	MCF-7	breast:
8	chr14:65185854..65191054-chr14:65221241..65225762,8	MCF-7	breast:
9	chr14:65207698..65210680-chr14:65221947..65223874,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000126822	Chromatin interaction
ENSG00000126461	Chromatin interaction
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11622977	1.00[ASN][1000 genomes]
rs11623010	1.00[ASN][1000 genomes]
rs11623016	1.00[ASN][1000 genomes]
rs17102053	1.00[ASN][1000 genomes]
rs17180217	1.00[ASN][1000 genomes]
rs56181906	1.00[ASN][1000 genomes]
rs7157344	1.00[ASN][1000 genomes]
rs7157527	1.00[ASN][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	esv1818582	chr14:65172898-65256685	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1035833	chr14:65176371-65246181	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv1801406	chr14:65193725-65264416	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
4	nsv902023	chr14:65200821-65243885	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv902024	chr14:65200821-65244950	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65209800-65223600	Weak transcription	Psoas Muscle	Psoas
2	chr14:65211200-65228800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:65212000-65224400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:65212800-65224200	Weak transcription	Aorta	Aorta
5	chr14:65214000-65223600	Weak transcription	Right Atrium	heart
6	chr14:65214200-65224800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:65214400-65224200	Weak transcription	Fetal Lung	lung
8	chr14:65214400-65224400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:65214400-65224600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:65214400-65224600	Weak transcription	Fetal Kidney	kidney
11	chr14:65214600-65224600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:65214800-65224600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:65215000-65224800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:65215200-65224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr14:65215200-65232400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:65215400-65223600	Weak transcription	Gastric	stomach
17	chr14:65215400-65224600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr14:65215400-65224800	Weak transcription	Brain Substantia Nigra	brain
19	chr14:65215600-65224600	Weak transcription	Brain Angular Gyrus	brain
20	chr14:65216200-65224400	Weak transcription	Brain Anterior Caudate	brain
21	chr14:65216800-65223400	Weak transcription	Left Ventricle	heart
22	chr14:65216800-65223600	Weak transcription	Right Ventricle	heart
23	chr14:65216800-65224000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:65216800-65224400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:65216800-65224600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr14:65216800-65224800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:65216800-65225000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr14:65217000-65224400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:65217400-65222800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:65217400-65224400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr14:65217400-65224400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:65219400-65230000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:65219800-65228600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:65220000-65223600	Weak transcription	Fetal Muscle Leg	muscle
35	chr14:65220000-65225400	Enhancers	Primary T cells fromperipheralblood	blood
36	chr14:65220600-65225800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:65220600-65232200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:65220800-65233000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr14:65221000-65224600	Enhancers	NHEK	skin
40	chr14:65221200-65228800	Enhancers	HMEC	breast
41	chr14:65221200-65231600	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr14:65221200-65231600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:65221400-65229800	Enhancers	Pancreas	Pancrea
44	chr14:65221400-65230000	Enhancers	Fetal Intestine Small	intestine
45	chr14:65221400-65231600	Enhancers	Spleen	Spleen
46	chr14:65221400-65232600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:65221600-65227800	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr14:65221600-65232400	Enhancers	Fetal Intestine Large	intestine
49	chr14:65221800-65222600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:65221800-65222800	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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