Variant report

Variant	rs4531669
Chromosome Location	chr14:77926398-77926399
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:77923483-77926428	SK-N-SH	brain:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:77921860..77928400-chr14:77931824..77937732,8	MCF-7	breast:
2	chr14:77925306..77928562-chr14:78081993..78085089,3	MCF-7	breast:
3	chr14:77787369..77789536-chr14:77923983..77928279,4	K562	blood:
4	chr14:77924775..77928699-chr14:77931957..77935059,4	K562	blood:
5	chr14:77785598..77789538-chr14:77924091..77927637,5	MCF-7	breast:
6	chr14:77924491..77927029-chr14:77963244..77966693,3	MCF-7	breast:
7	chr14:77789665..77794031-chr14:77921841..77927059,7	MCF-7	breast:
8	chr14:77916294..77921948-chr14:77922001..77926650,9	K562	blood:
9	chr14:77771713..77774149-chr14:77924660..77927150,3	MCF-7	breast:

No data

Variant related genes	Relation type
VIPAS39	TF binding region
AHSA1	TF binding region
ENSG00000212371	Chromatin interaction
ENSG00000151445	Chromatin interaction
ENSG00000100591	Chromatin interaction
ENSG00000100593	Chromatin interaction
ENSG00000100596	Chromatin interaction
ENSG00000100577	Chromatin interaction
ENSG00000009830	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10145609	1.00[CHB][hapmap]
rs1063270	1.00[CHB][hapmap]
rs1063271	1.00[CHB][hapmap]
rs11159266	0.81[AMR][1000 genomes]
rs11159268	1.00[CHB][hapmap]
rs11159269	1.00[CHB][hapmap]
rs12433806	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs12435437	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs12436626	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs12437312	0.81[AMR][1000 genomes]
rs12887556	1.00[CHB][hapmap]
rs12891780	1.00[AFR][1000 genomes]
rs17751319	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17751370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17751562	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs17824238	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17824298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17824358	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2142188	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2293802	1.00[JPT][hapmap]
rs2364602	1.00[CHB][hapmap]
rs35472486	1.00[AFR][1000 genomes]
rs3742729	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3742731	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3742732	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3742733	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3742739	1.00[JPT][hapmap]
rs56040359	1.00[AFR][1000 genomes]
rs6574383	1.00[CHB][hapmap]
rs8003820	1.00[CHB][hapmap]
rs8007669	1.00[CHB][hapmap]
rs8011528	1.00[CHB][hapmap]
rs8177539	1.00[CHB][hapmap];1.00[AFR][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	nsv1041985	chr14:77877421-77936969	Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77924600-77926400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:77924600-77926800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr14:77925200-77926600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:77925600-77926400	Transcr. at gene 5' and 3'	HepG2	liver
5	chr14:77925600-77926600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr14:77925600-77926600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
7	chr14:77925600-77926800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:77925600-77927000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:77925600-77936600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:77925800-77926400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:77925800-77926400	Genic enhancers	Primary hematopoietic stem cells	blood
12	chr14:77925800-77926400	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr14:77925800-77926400	Transcr. at gene 5' and 3'	Brain Angular Gyrus	brain
14	chr14:77925800-77926400	Transcr. at gene 5' and 3'	Brain Anterior Caudate	brain
15	chr14:77925800-77926400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
16	chr14:77925800-77926400	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
17	chr14:77925800-77926400	Transcr. at gene 5' and 3'	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:77925800-77926400	Transcr. at gene 5' and 3'	Brain Substantia Nigra	brain
19	chr14:77925800-77926400	Genic enhancers	Fetal Muscle Leg	muscle
20	chr14:77925800-77926400	Enhancers	Psoas Muscle	Psoas
21	chr14:77925800-77926400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
22	chr14:77925800-77926400	Genic enhancers	Thymus	Thymus
23	chr14:77925800-77926400	Genic enhancers	Spleen	Spleen
24	chr14:77925800-77926400	Transcr. at gene 5' and 3'	A549	lung
25	chr14:77925800-77926400	Transcr. at gene 5' and 3'	K562	blood
26	chr14:77925800-77926400	Transcr. at gene 5' and 3'	NHEK	skin
27	chr14:77925800-77926600	Genic enhancers	Primary B cells from cord blood	blood
28	chr14:77925800-77926600	Genic enhancers	Primary B cells from peripheral blood	blood
29	chr14:77925800-77926600	Genic enhancers	Primary T cells fromperipheralblood	blood
30	chr14:77925800-77926600	Transcr. at gene 5' and 3'	Hela-S3	cervix
31	chr14:77925800-77926800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:77925800-77926800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr14:77925800-77928400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:77925800-77936400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr14:77926000-77926400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:77926000-77926400	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
37	chr14:77926000-77926400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:77926000-77926400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr14:77926000-77926400	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:77926000-77926400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:77926000-77926400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr14:77926000-77926400	Genic enhancers	Adipose Nuclei	Adipose
43	chr14:77926000-77926400	Genic enhancers	Liver	Liver
44	chr14:77926000-77926400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
45	chr14:77926000-77926400	Genic enhancers	Pancreas	Pancrea
46	chr14:77926000-77926400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
47	chr14:77926000-77926400	Enhancers	Right Atrium	heart
48	chr14:77926000-77926400	Active TSS	Right Ventricle	heart
49	chr14:77926000-77926400	Transcr. at gene 5' and 3'	HMEC	breast
50	chr14:77926000-77926400	Genic enhancers	HSMMtube	muscle

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