Variant report

Variant	rs6799812
Chromosome Location	chr3:47344525-47344526
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47344315..47346050-chr3:47359067..47360914,2	K562	blood:
2	chr3:47342695..47345619-chr3:47348250..47351041,3	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1038392	0.82[YRI][hapmap]
rs17079575	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs57658701	0.90[AMR][1000 genomes]
rs59695705	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60155495	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6768809	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6769788	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6784515	0.90[AMR][1000 genomes]
rs6795049	0.90[AMR][1000 genomes]
rs6798440	0.81[YRI][hapmap];0.90[AMR][1000 genomes]
rs72897905	0.90[AMR][1000 genomes]
rs72909157	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72911240	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs7623555	0.90[AMR][1000 genomes]
rs7629441	0.90[AMR][1000 genomes]
rs7646252	0.84[AFR][1000 genomes];1.00[AMR][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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47325400-47361000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:47325600-47344600	Weak transcription	Ovary	ovary
3	chr3:47325600-47367600	Weak transcription	A549	lung
4	chr3:47325800-47352000	Weak transcription	Fetal Kidney	kidney
5	chr3:47326200-47344600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:47326200-47356200	Weak transcription	Fetal Heart	heart
7	chr3:47326200-47356600	Weak transcription	NHDF-Ad	bronchial
8	chr3:47326200-47359600	Weak transcription	Fetal Lung	lung
9	chr3:47326200-47362200	Weak transcription	Gastric	stomach
10	chr3:47326200-47363200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr3:47326400-47364400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:47326600-47351600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:47326800-47356600	Weak transcription	Small Intestine	intestine
14	chr3:47327600-47348400	Weak transcription	Fetal Brain Male	brain
15	chr3:47328400-47364400	Weak transcription	Pancreas	Pancrea
16	chr3:47329200-47359800	Weak transcription	NHLF	lung
17	chr3:47330400-47352000	Weak transcription	NHEK	skin
18	chr3:47330400-47356000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:47330600-47346200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:47330600-47359800	Weak transcription	Hela-S3	cervix
21	chr3:47330600-47360600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr3:47330800-47356600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr3:47330800-47361800	Weak transcription	HMEC	breast
24	chr3:47332200-47361800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:47332400-47355600	Weak transcription	Brain Substantia Nigra	brain
26	chr3:47332600-47361000	Weak transcription	Esophagus	oesophagus
27	chr3:47332800-47361000	Weak transcription	Aorta	Aorta
28	chr3:47333000-47356400	Weak transcription	Osteobl	bone
29	chr3:47333200-47364800	Weak transcription	NH-A	brain
30	chr3:47333800-47371400	Weak transcription	Psoas Muscle	Psoas
31	chr3:47336400-47360200	Weak transcription	Thymus	Thymus
32	chr3:47337000-47356600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr3:47337000-47361000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr3:47338400-47345000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:47338400-47361200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr3:47338600-47355600	Weak transcription	Left Ventricle	heart
37	chr3:47338600-47361200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr3:47338600-47369800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr3:47338600-47371200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr3:47338800-47344800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr3:47338800-47351600	Weak transcription	Fetal Thymus	thymus
42	chr3:47338800-47356200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr3:47338800-47360200	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:47339000-47356200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr3:47339000-47359400	Weak transcription	Spleen	Spleen
46	chr3:47339000-47361800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr3:47341600-47360000	Weak transcription	Fetal Intestine Large	intestine
48	chr3:47342400-47346000	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr3:47342800-47345000	Strong transcription	Dnd41	blood
50	chr3:47342800-47346000	Strong transcription	Primary T cells from cord blood	blood

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