Variant report

Variant	rs4854947
Chromosome Location	chr3:179414705-179414706
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:179405760..179407669-chr3:179413822..179415850,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2111392	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4854948	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6805646	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs800368	0.84[EUR][1000 genomes]
rs9833074	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9834881	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9838020	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9838032	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][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	nsv4140	chr3:179383961-179429704	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:179372600-179425200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:179380600-179418800	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr3:179384800-179415200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr3:179384800-179425000	Weak transcription	Brain Anterior Caudate	brain
5	chr3:179384800-179428400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:179384800-179443800	Weak transcription	Esophagus	oesophagus
7	chr3:179385000-179415600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:179385000-179439200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:179385000-179448400	Weak transcription	Fetal Brain Male	brain
10	chr3:179385400-179419000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr3:179391000-179444000	Weak transcription	Pancreas	Pancrea
12	chr3:179391000-179452200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:179391400-179415400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:179391400-179426400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:179391400-179439200	Weak transcription	NHEK	skin
16	chr3:179391600-179424000	Weak transcription	Hela-S3	cervix
17	chr3:179392600-179425000	Weak transcription	Aorta	Aorta
18	chr3:179394400-179415600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:179394400-179419400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:179397000-179419200	Weak transcription	Liver	Liver
21	chr3:179397200-179423800	Weak transcription	HSMMtube	muscle
22	chr3:179397800-179439200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr3:179398600-179421800	Weak transcription	Brain Substantia Nigra	brain
24	chr3:179399000-179426400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:179399000-179434000	Weak transcription	A549	lung
26	chr3:179399000-179459800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:179399200-179425000	Weak transcription	Brain Germinal Matrix	brain
28	chr3:179399600-179425000	Weak transcription	Lung	lung
29	chr3:179400000-179421600	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:179400000-179424000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr3:179400800-179426800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:179401400-179424200	Weak transcription	Right Ventricle	heart
33	chr3:179401600-179415400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr3:179402200-179425000	Weak transcription	Thymus	Thymus
35	chr3:179402200-179425200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr3:179402600-179425000	Weak transcription	Fetal Intestine Large	intestine
37	chr3:179402600-179428600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:179402800-179421200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:179404000-179421400	Weak transcription	Primary B cells from cord blood	blood
40	chr3:179404000-179424000	Weak transcription	HepG2	liver
41	chr3:179404200-179422600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr3:179404200-179425000	Weak transcription	Placenta	Placenta
43	chr3:179404400-179426600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:179404800-179426600	Weak transcription	GM12878-XiMat	blood
45	chr3:179405600-179419000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr3:179405800-179429200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr3:179406000-179425000	Weak transcription	Fetal Brain Female	brain
48	chr3:179406200-179419200	Weak transcription	Primary T cells from cord blood	blood
49	chr3:179406200-179503000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr3:179406400-179415600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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