Variant report

Variant	rs6679804
Chromosome Location	chr1:225639065-225639066
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225637801..225642696-chr1:225647950..225650939,4	K562	blood:
2	chr1:225637530..225639456-chr1:225642105..225644098,3	K562	blood:
3	chr1:225613873..225616554-chr1:225637686..225639961,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143815	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17500089	0.90[ASN][1000 genomes]
rs17558869	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17559267	0.90[ASN][1000 genomes]
rs7544179	0.91[AMR][1000 genomes]
rs880434	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv34905	chr1:225631404-225676582	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225633000-225640200	Enhancers	Fetal Thymus	thymus
2	chr1:225633600-225642000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:225634200-225642000	Weak transcription	K562	blood
4	chr1:225634600-225648400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:225635000-225647800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr1:225635200-225639200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:225635200-225641200	Weak transcription	Liver	Liver
8	chr1:225635400-225641800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:225635600-225641600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:225635600-225642000	Weak transcription	Pancreas	Pancrea
11	chr1:225635800-225639800	Enhancers	Adipose Nuclei	Adipose
12	chr1:225636200-225650000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:225636400-225639800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:225636400-225639800	Enhancers	HMEC	breast
15	chr1:225636400-225641600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:225636400-225641600	Weak transcription	NHLF	lung
17	chr1:225636400-225642000	Weak transcription	Right Atrium	heart
18	chr1:225636600-225639400	Enhancers	NHEK	skin
19	chr1:225636600-225640800	Enhancers	HepG2	liver
20	chr1:225636600-225641400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:225636600-225641600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:225636600-225641800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:225636600-225642000	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:225636800-225639600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:225637200-225639200	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr1:225637200-225639400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr1:225637200-225641600	Weak transcription	Osteobl	bone
28	chr1:225637400-225639200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:225637400-225639200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:225637400-225641400	Enhancers	Colon Smooth Muscle	Colon
31	chr1:225637600-225641800	Weak transcription	Small Intestine	intestine
32	chr1:225637800-225639400	Enhancers	Hela-S3	cervix
33	chr1:225637800-225639800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr1:225637800-225640200	Enhancers	Stomach Smooth Muscle	stomach
35	chr1:225637800-225641400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:225637800-225641400	Weak transcription	Stomach Mucosa	stomach
37	chr1:225637800-225642000	Weak transcription	Gastric	stomach
38	chr1:225637800-225642000	Weak transcription	Lung	lung
39	chr1:225637800-225647600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr1:225637800-225648400	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:225638200-225639800	Enhancers	Fetal Muscle Leg	muscle
42	chr1:225638400-225639600	Enhancers	Rectal Smooth Muscle	rectum
43	chr1:225638400-225640400	Enhancers	Fetal Stomach	stomach
44	chr1:225638600-225639400	Enhancers	Primary hematopoietic stem cells short term culture	blood
45	chr1:225638600-225639600	Enhancers	Fetal Muscle Trunk	muscle
46	chr1:225638800-225639200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:225638800-225640200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:225638800-225641400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr1:225638800-225641400	Weak transcription	A549	lung
50	chr1:225638800-225642000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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