Variant report

Variant	rs6535547
Chromosome Location	chr4:148604886-148604887
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10012122	1.00[TSI][hapmap]
rs10305875	1.00[MEX][hapmap]
rs10519914	1.00[TSI][hapmap]
rs11939191	1.00[TSI][hapmap]
rs1517135	1.00[TSI][hapmap]
rs17023959	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2654947	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap]
rs6535551	1.00[YRI][hapmap]
rs9308221	1.00[TSI][hapmap]
rs931779	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs9997823	1.00[TSI][hapmap]
rs9999853	1.00[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	esv3329646	chr4:148590774-148611959	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148603600-148605400	Active TSS	Hela-S3	cervix
2	chr4:148603800-148605400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:148603800-148605600	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr4:148603800-148605600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr4:148603800-148605800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr4:148603800-148605800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:148603800-148605800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:148603800-148605800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:148603800-148606000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:148603800-148606000	Active TSS	Ovary	ovary
11	chr4:148603800-148606000	Active TSS	Psoas Muscle	Psoas
12	chr4:148603800-148606200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:148603800-148606200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr4:148603800-148606200	Active TSS	Stomach Smooth Muscle	stomach
15	chr4:148604000-148605000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:148604000-148605800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr4:148604000-148605800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr4:148604000-148605800	Active TSS	Fetal Brain Female	brain
19	chr4:148604000-148605800	Active TSS	HSMMtube	muscle
20	chr4:148604000-148606000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr4:148604000-148606000	Active TSS	Right Atrium	heart
22	chr4:148604000-148606200	Flanking Active TSS	Primary hematopoietic stem cells	blood
23	chr4:148604000-148606200	Active TSS	Brain Cingulate Gyrus	brain
24	chr4:148604200-148605000	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr4:148604200-148605000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr4:148604200-148605000	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr4:148604200-148605600	Active TSS	H1 Cell Line	embryonic stem cell
28	chr4:148604200-148605600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:148604200-148605600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:148604200-148605600	Active TSS	Colonic Mucosa	Colon
31	chr4:148604200-148605600	Active TSS	Fetal Intestine Small	intestine
32	chr4:148604200-148605600	Active TSS	Fetal Muscle Leg	muscle
33	chr4:148604200-148605600	Active TSS	Fetal Thymus	thymus
34	chr4:148604200-148605800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:148604200-148605800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:148604200-148605800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:148604200-148605800	Active TSS	Duodenum Mucosa	Duodenum
38	chr4:148604200-148605800	Active TSS	Fetal Intestine Large	intestine
39	chr4:148604200-148605800	Active TSS	Fetal Kidney	kidney
40	chr4:148604200-148605800	Active TSS	Placenta	Placenta
41	chr4:148604200-148605800	Active TSS	Fetal Stomach	stomach
42	chr4:148604200-148605800	Active TSS	Thymus	Thymus
43	chr4:148604200-148605800	Active TSS	NHLF	lung
44	chr4:148604200-148606000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:148604200-148606000	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr4:148604200-148606000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:148604200-148606000	Active TSS	Colon Smooth Muscle	Colon
48	chr4:148604200-148606000	Active TSS	Right Ventricle	heart
49	chr4:148604200-148606200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr4:148604200-148606200	Active TSS	Skeletal Muscle Male	skeletal muscle

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