Variant report

Variant	rs6821491
Chromosome Location	chr4:85713972-85713973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:85710856..85713055-chr4:85713853..85715434,2	K562	blood:
2	chr4:85708754..85711752-chr4:85713766..85715431,2	MCF-7	breast:
3	chr4:85710281..85713058-chr4:85713146..85715661,2	K562	blood:
4	chr4:85713800..85716169-chr4:85718069..85720303,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10049510	0.90[LWK][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4569747	1.00[AMR][1000 genomes]
rs56353041	1.00[EUR][1000 genomes]
rs58516106	1.00[EUR][1000 genomes]
rs6824288	1.00[AMR][1000 genomes]
rs6838671	1.00[EUR][1000 genomes]
rs72965167	1.00[AMR][1000 genomes]
rs73831539	1.00[EUR][1000 genomes]
rs7659019	1.00[EUR][1000 genomes]
rs7679720	1.00[EUR][1000 genomes]
rs9306982	1.00[EUR][1000 genomes]

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	esv1829655	chr4:85577491-86292692	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv532738	chr4:85590841-85777997	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv427684	chr4:85668487-85863446	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:85619200-85726000	Weak transcription	Hela-S3	cervix
2	chr4:85683800-85732000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr4:85684800-85725000	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:85688800-85725600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:85689600-85717200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:85690000-85722000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:85690800-85725600	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr4:85691000-85724800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:85691600-85718400	Strong transcription	Placenta	Placenta
10	chr4:85691800-85716800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr4:85695200-85718000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr4:85696400-85757000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:85697400-85772800	Weak transcription	Small Intestine	intestine
14	chr4:85698000-85724600	Strong transcription	Liver	Liver
15	chr4:85700000-85716200	Strong transcription	Adipose Nuclei	Adipose
16	chr4:85700200-85724600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:85700400-85716400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:85700400-85718000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:85701600-85783000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:85702200-85732200	Weak transcription	Spleen	Spleen
21	chr4:85702400-85716200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:85703800-85721800	Weak transcription	Gastric	stomach
23	chr4:85704200-85717600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:85704200-85722000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr4:85704200-85739800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr4:85704400-85722000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr4:85704600-85724400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:85705200-85721000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:85705200-85722000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:85705200-85722000	Weak transcription	Pancreas	Pancrea
31	chr4:85705200-85722800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:85705200-85725400	Weak transcription	Aorta	Aorta
33	chr4:85705200-85735200	Weak transcription	A549	lung
34	chr4:85705400-85770000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr4:85705800-85721800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr4:85707200-85725200	Weak transcription	Stomach Mucosa	stomach
37	chr4:85707400-85722000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr4:85708600-85731000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:85708600-85777400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:85708800-85721800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:85708800-85722000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr4:85708800-85741200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:85709000-85715200	Weak transcription	Fetal Brain Male	brain
44	chr4:85709000-85715200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr4:85709000-85717600	Weak transcription	NH-A	brain
46	chr4:85709000-85719800	Weak transcription	NHEK	skin
47	chr4:85709000-85721800	Weak transcription	Brain Germinal Matrix	brain
48	chr4:85709000-85721800	Weak transcription	Brain Substantia Nigra	brain
49	chr4:85709000-85721800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr4:85709000-85722000	Weak transcription	Colon Smooth Muscle	Colon

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