Variant report

Variant	rs4680906
Chromosome Location	chr3:28318747-28318748
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	chr3:28308373..28310438-chr3:28316612..28319409,2	K562	blood:
2	chr3:28308378..28310438-chr3:28317239..28319409,2	K562	blood:

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

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

rs_ID	r²[population]
rs10510607	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.84[GIH][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs10510609	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[ASN][1000 genomes]
rs12054402	0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[MEX][hapmap];0.81[ASN][1000 genomes]
rs17021298	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];0.92[MKK][hapmap];0.90[ASN][1000 genomes]
rs1845166	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs4502545	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs4680748	0.87[CHB][hapmap]
rs55954817	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56029590	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs56085195	0.90[ASN][1000 genomes]
rs56116734	0.81[ASN][1000 genomes]
rs7645825	1.00[ASW][hapmap];0.94[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.91[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.94[EUR][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	esv3328565	chr3:27991169-28915035	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv876649	chr3:28126595-28718454	Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:28284400-28321800	Weak transcription	NHLF	lung
2	chr3:28303400-28322200	Weak transcription	Small Intestine	intestine
3	chr3:28303600-28340600	Weak transcription	NHEK	skin
4	chr3:28303800-28320800	Weak transcription	Placenta	Placenta
5	chr3:28304200-28332400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:28305600-28322600	Weak transcription	Osteobl	bone
7	chr3:28306400-28332400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:28306600-28335800	Weak transcription	Hela-S3	cervix
9	chr3:28309000-28336600	Weak transcription	HUVEC	blood vessel
10	chr3:28310400-28321200	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr3:28311400-28319000	Weak transcription	Spleen	Spleen
12	chr3:28311600-28319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:28313400-28322800	Weak transcription	Colonic Mucosa	Colon
14	chr3:28314200-28332400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:28314400-28332400	Weak transcription	Ovary	ovary
16	chr3:28314400-28365400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:28314600-28332600	Weak transcription	Left Ventricle	heart
18	chr3:28314800-28343400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:28315000-28332400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr3:28315000-28333000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr3:28315000-28363000	Weak transcription	A549	lung
22	chr3:28315200-28332200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:28315400-28320800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:28315600-28319200	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:28315600-28325800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr3:28315600-28326400	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr3:28315600-28332400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr3:28315600-28332400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr3:28315600-28332400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr3:28315800-28320600	Weak transcription	Colon Smooth Muscle	Colon
31	chr3:28315800-28321200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:28315800-28332200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:28315800-28332200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:28315800-28332400	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:28316000-28322200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:28316000-28332000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr3:28316200-28319000	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:28316200-28321000	Weak transcription	Psoas Muscle	Psoas
39	chr3:28316200-28333200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr3:28316400-28322200	Weak transcription	Fetal Brain Female	brain
41	chr3:28316400-28332000	Weak transcription	K562	blood
42	chr3:28316600-28319800	Weak transcription	Brain Substantia Nigra	brain
43	chr3:28317000-28328400	Weak transcription	Brain Anterior Caudate	brain
44	chr3:28317200-28332200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr3:28317400-28319200	Weak transcription	Fetal Lung	lung
46	chr3:28317400-28319400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr3:28317400-28320600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr3:28317400-28320600	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr3:28317400-28332000	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr3:28317400-28332400	Weak transcription	HSMM	muscle

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