Variant report

Variant	rs4983409
Chromosome Location	chr14:105916420-105916421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105914511..105916451-chr14:105992688..105994743,2	MCF-7	breast:
2	chr14:105863414..105866995-chr14:105913665..105917421,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226174	Chromatin interaction
ENSG00000184986	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10150545	0.81[AFR][1000 genomes]
rs10150915	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12590846	1.00[AMR][1000 genomes]
rs4983415	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4983623	0.80[YRI][hapmap]
rs4983625	0.87[ASW][hapmap];0.80[YRI][hapmap]
rs58622351	1.00[AMR][1000 genomes]
rs6576102	0.89[AFR][1000 genomes]
rs7161158	0.87[ASW][hapmap];0.80[YRI][hapmap];0.90[AFR][1000 genomes]
rs8008091	1.00[AMR][1000 genomes]
rs8008685	1.00[AMR][1000 genomes]
rs8009236	0.81[AFR][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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105887600-105919000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:105888600-105918400	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:105889200-105939800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:105889200-105939800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:105897400-105917000	Weak transcription	Primary B cells from cord blood	blood
6	chr14:105897600-105927200	Weak transcription	NH-A	brain
7	chr14:105897800-105940000	Weak transcription	K562	blood
8	chr14:105898400-105931600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:105898400-105939800	Weak transcription	NHDF-Ad	bronchial
10	chr14:105902800-105925200	Strong transcription	Dnd41	blood
11	chr14:105902800-105937800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr14:105903200-105935400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:105904000-105919000	Weak transcription	Hela-S3	cervix
14	chr14:105904400-105939800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr14:105906800-105931000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:105907000-105921800	Weak transcription	HMEC	breast
17	chr14:105907000-105940600	Weak transcription	Small Intestine	intestine
18	chr14:105907600-105916800	Weak transcription	Brain Angular Gyrus	brain
19	chr14:105909200-105916600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:105909200-105916600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr14:105909400-105917000	Weak transcription	GM12878-XiMat	blood
22	chr14:105909600-105916600	Weak transcription	Primary T cells from cord blood	blood
23	chr14:105909600-105916600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr14:105909600-105916600	Weak transcription	Aorta	Aorta
25	chr14:105909600-105916600	Weak transcription	Liver	Liver
26	chr14:105909600-105916600	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr14:105909600-105923000	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:105909800-105926800	Weak transcription	HUVEC	blood vessel
29	chr14:105910600-105925200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:105911000-105925600	Strong transcription	Fetal Brain Female	brain
31	chr14:105911200-105925600	Strong transcription	Thymus	Thymus
32	chr14:105912000-105937000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:105913200-105917600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:105913400-105917200	Weak transcription	HepG2	liver
35	chr14:105913800-105921600	Strong transcription	Fetal Intestine Small	intestine
36	chr14:105914200-105925400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:105914600-105925200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr14:105914800-105925200	Strong transcription	Fetal Thymus	thymus
39	chr14:105915000-105916800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:105915000-105925600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:105915000-105926800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr14:105915400-105916800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr14:105915400-105917200	Weak transcription	HSMM	muscle
44	chr14:105915400-105917400	Genic enhancers	Right Ventricle	heart
45	chr14:105915400-105918200	Genic enhancers	Fetal Muscle Leg	muscle
46	chr14:105915400-105918600	Weak transcription	Stomach Mucosa	stomach
47	chr14:105915400-105924800	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:105915400-105925200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
49	chr14:105915400-105925200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr14:105915400-105925200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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