Variant report

Variant	rs6808633
Chromosome Location	chr3:49504759-49504760
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49501861..49505109-chr3:49505439..49508808,5	K562	blood:

Variant related genes	Relation type
ENSG00000173402	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34379671	1.00[AMR][1000 genomes]
rs6446261	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6772424	1.00[AMR][1000 genomes]
rs6777731	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6800591	1.00[AMR][1000 genomes]
rs6806073	1.00[ASW][hapmap];1.00[LWK][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7623582	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7626820	1.00[AMR][1000 genomes]
rs7633189	1.00[AMR][1000 genomes]
rs7634945	1.00[AMR][1000 genomes]
rs7636222	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7641976	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	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49490600-49506600	Enhancers	Fetal Muscle Leg	muscle
2	chr3:49491800-49506200	Enhancers	Placenta	Placenta
3	chr3:49497400-49506400	Weak transcription	Brain Germinal Matrix	brain
4	chr3:49498000-49506000	Weak transcription	Fetal Stomach	stomach
5	chr3:49499600-49506600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:49500000-49504800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:49500000-49505600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:49500000-49505600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:49500000-49506200	Weak transcription	Adipose Nuclei	Adipose
10	chr3:49500000-49506400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr3:49500000-49506400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr3:49500000-49506400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr3:49500000-49506400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr3:49500000-49506400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr3:49500000-49506400	Weak transcription	Psoas Muscle	Psoas
16	chr3:49500000-49506400	Weak transcription	NH-A	brain
17	chr3:49500000-49506400	Weak transcription	NHDF-Ad	bronchial
18	chr3:49500000-49506600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:49501400-49506600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:49502200-49506600	Enhancers	Fetal Muscle Trunk	muscle
21	chr3:49502400-49506400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr3:49502600-49506800	Enhancers	Fetal Heart	heart
23	chr3:49502800-49505200	Enhancers	Pancreas	Pancrea
24	chr3:49503000-49505000	Enhancers	Stomach Mucosa	stomach
25	chr3:49503000-49506600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr3:49503400-49505600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr3:49503400-49505800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr3:49503400-49506000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr3:49503400-49506200	Weak transcription	A549	lung
30	chr3:49503400-49506400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr3:49503400-49506400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:49503400-49506400	Weak transcription	Colonic Mucosa	Colon
33	chr3:49503400-49506400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr3:49503600-49505600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr3:49503600-49505600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:49503600-49505800	Weak transcription	Right Ventricle	heart
37	chr3:49503600-49505800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:49503600-49506000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:49503600-49506000	Enhancers	Hela-S3	cervix
40	chr3:49503600-49506400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:49503600-49506400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:49503600-49506400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr3:49503600-49506400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr3:49503600-49506400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:49503600-49506400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:49503600-49506400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr3:49503600-49506400	Weak transcription	Brain Anterior Caudate	brain
48	chr3:49503600-49506400	Weak transcription	Fetal Intestine Large	intestine
49	chr3:49503600-49506400	Weak transcription	HSMM	muscle
50	chr3:49503600-49506400	Weak transcription	NHEK	skin

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