Variant report

Variant	rs6822371
Chromosome Location	chr4:103233207-103233208
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103228415..103231285-chr4:103233015..103236394,4	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11097773	0.95[ASN][1000 genomes]
rs11735688	0.80[ASN][1000 genomes]
rs13103835	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545744	0.92[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs35411892	0.95[ASN][1000 genomes]
rs4699011	0.84[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4699013	0.80[ASN][1000 genomes]
rs6814003	0.82[JPT][hapmap];0.95[ASN][1000 genomes]
rs6855535	0.92[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs72692248	0.92[ASN][1000 genomes]
rs922361	0.92[CHB][hapmap];0.85[JPT][hapmap]
rs971752	0.92[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs998719	0.92[CHB][hapmap];0.85[JPT][hapmap];0.80[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	nsv428447	chr4:103103730-103262107	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6822371	MAF1	trans	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103182000-103255400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr4:103196200-103242400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:103210400-103256800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr4:103214800-103243200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr4:103217600-103236600	Weak transcription	Liver	Liver
6	chr4:103218000-103242800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:103218200-103239800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:103218600-103245800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr4:103219200-103242600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:103220600-103233600	Weak transcription	Primary T cells from cord blood	blood
11	chr4:103221200-103235600	Weak transcription	Lung	lung
12	chr4:103221200-103237400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:103221400-103239000	Weak transcription	Ovary	ovary
14	chr4:103221400-103242600	Weak transcription	K562	blood
15	chr4:103224000-103233600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:103224000-103263600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr4:103224400-103239800	Weak transcription	Colonic Mucosa	Colon
18	chr4:103225600-103240200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr4:103225800-103237800	Weak transcription	Primary B cells from cord blood	blood
20	chr4:103228000-103242400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:103228200-103233800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr4:103228200-103242800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr4:103228400-103235400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:103228600-103239200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:103228600-103242600	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr4:103229600-103239800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:103229600-103239800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr4:103229600-103240200	Weak transcription	Placenta	Placenta
29	chr4:103229800-103234800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr4:103229800-103238600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr4:103229800-103240600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr4:103230000-103235000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr4:103230000-103242800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:103230000-103245800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr4:103231200-103239600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:103231400-103240600	Weak transcription	Pancreas	Pancrea
37	chr4:103231800-103233600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr4:103231800-103237600	Weak transcription	GM12878-XiMat	blood
39	chr4:103232400-103235200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr4:103232600-103242400	Weak transcription	Dnd41	blood
41	chr4:103232600-103249400	Weak transcription	Hela-S3	cervix
42	chr4:103232800-103235200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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