Variant report

Variant	rs6787806
Chromosome Location	chr3:52294886-52294887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52292693..52296785-chr3:52298955..52303017,4	K562	blood:
2	chr3:52294156..52296311-chr3:52321858..52323486,2	K562	blood:
3	chr3:52289327..52293774-chr3:52294215..52297996,5	MCF-7	breast:
4	chr3:52287693..52289241-chr3:52294525..52296134,2	K562	blood:

Variant related genes	Relation type
ENSG00000168237	Chromatin interaction
ENSG00000164091	Chromatin interaction
ENSG00000199150	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs36010847	1.00[AMR][1000 genomes]
rs61734654	1.00[AMR][1000 genomes]
rs6771643	1.00[AMR][1000 genomes]
rs6786835	1.00[AMR][1000 genomes]
rs72947525	1.00[AMR][1000 genomes]
rs72947530	1.00[AMR][1000 genomes]
rs72947531	1.00[AMR][1000 genomes]
rs72947532	1.00[AMR][1000 genomes]
rs72965274	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519445	chr3:52004317-52367932	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv470572	chr3:52123313-52350212	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
3	nsv834694	chr3:52178983-52335821	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
4	nsv834695	chr3:52199701-52400577	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer 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	98 gene(s)	inside rSNPs	diseases
5	nsv876787	chr3:52236762-52367932	Genic enhancers Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
6	nsv876788	chr3:52247110-52367932	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	90 gene(s)	inside rSNPs	diseases
7	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
8	nsv984542	chr3:52285682-52516115	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
9	nsv822090	chr3:52292814-52311153	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 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	chr3:52281800-52303400	Weak transcription	Right Atrium	heart
2	chr3:52282000-52298800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:52282000-52299400	Strong transcription	Liver	Liver
4	chr3:52282200-52303000	Strong transcription	Fetal Lung	lung
5	chr3:52282200-52310000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:52282400-52297200	Strong transcription	Duodenum Smooth Muscle	Duodenum
7	chr3:52282400-52309600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:52282600-52304000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:52282600-52308200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:52282800-52303800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:52282800-52305000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr3:52283000-52306000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:52283200-52308400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr3:52283400-52304600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr3:52283400-52305400	Strong transcription	Brain Germinal Matrix	brain
16	chr3:52283600-52308800	Strong transcription	Fetal Muscle Trunk	muscle
17	chr3:52283800-52309600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:52284400-52304800	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr3:52284600-52305800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:52284800-52300200	Strong transcription	Pancreas	Pancrea
21	chr3:52285000-52302600	Strong transcription	A549	lung
22	chr3:52285600-52308400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr3:52285800-52307400	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr3:52286000-52298200	Strong transcription	Gastric	stomach
25	chr3:52286000-52302200	Strong transcription	Left Ventricle	heart
26	chr3:52286400-52306800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr3:52286600-52303400	Strong transcription	NHLF	lung
28	chr3:52287200-52296800	Strong transcription	Right Ventricle	heart
29	chr3:52287400-52295200	Strong transcription	Aorta	Aorta
30	chr3:52287400-52305400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:52287400-52305600	Strong transcription	HepG2	liver
32	chr3:52287800-52302200	Strong transcription	Lung	lung
33	chr3:52288000-52303400	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr3:52288000-52304200	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr3:52288000-52304200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr3:52288000-52304400	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr3:52288000-52305000	Strong transcription	Fetal Brain Female	brain
38	chr3:52288000-52305800	Strong transcription	Fetal Muscle Leg	muscle
39	chr3:52288200-52296000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr3:52288200-52296000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
41	chr3:52288200-52299800	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr3:52288200-52303000	Strong transcription	Brain Cingulate Gyrus	brain
43	chr3:52288200-52303400	Strong transcription	Colonic Mucosa	Colon
44	chr3:52288200-52303600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr3:52288400-52297600	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr3:52288400-52298200	Strong transcription	Placenta	Placenta
47	chr3:52288400-52299400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr3:52288400-52301800	Strong transcription	Adipose Nuclei	Adipose
49	chr3:52288400-52302000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:52288400-52302000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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