Variant report

Variant	rs67398618
Chromosome Location	chr1:224697438-224697439
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	chr1:224696655..224698863-chr1:224699911..224701908,2	K562	blood:

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction

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

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

rs_ID	r²[population]
rs34119581	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56311718	0.91[EUR][1000 genomes]
rs6426134	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6682205	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67267495	0.80[AMR][1000 genomes];0.92[EUR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224690000-224699400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:224690000-224702000	Enhancers	Liver	Liver
3	chr1:224691800-224698400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:224692000-224698400	Weak transcription	HSMM	muscle
5	chr1:224692000-224698400	Weak transcription	HSMMtube	muscle
6	chr1:224692000-224701600	Weak transcription	Fetal Lung	lung
7	chr1:224692400-224697800	Weak transcription	Placenta	Placenta
8	chr1:224692400-224701600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr1:224692600-224698800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr1:224692600-224700600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr1:224693000-224698400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:224693600-224699200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr1:224694200-224704000	Weak transcription	Right Atrium	heart
14	chr1:224694200-224717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:224694200-224727600	Weak transcription	Brain Anterior Caudate	brain
16	chr1:224694400-224697800	Weak transcription	Esophagus	oesophagus
17	chr1:224694400-224697800	Weak transcription	Osteobl	bone
18	chr1:224694400-224698400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr1:224694400-224698400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:224694600-224697800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:224695200-224698600	Enhancers	Fetal Intestine Large	intestine
22	chr1:224695200-224699000	Enhancers	NHDF-Ad	bronchial
23	chr1:224695800-224697800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:224695800-224698400	Weak transcription	HMEC	breast
25	chr1:224696400-224697600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:224696400-224701200	Weak transcription	Fetal Kidney	kidney
27	chr1:224696400-224716600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:224697000-224698400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:224697000-224698600	Enhancers	Adipose Nuclei	Adipose
30	chr1:224697000-224698600	Enhancers	Colonic Mucosa	Colon
31	chr1:224697000-224699000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:224697000-224699000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr1:224697000-224699200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:224697000-224699400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:224697000-224699400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr1:224697000-224700000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr1:224697200-224697600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:224697200-224697800	Enhancers	Lung	lung
39	chr1:224697200-224698200	Enhancers	Gastric	stomach
40	chr1:224697200-224698400	Enhancers	Stomach Mucosa	stomach
41	chr1:224697200-224698600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr1:224697200-224699200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:224697200-224699200	Enhancers	Fetal Intestine Small	intestine
44	chr1:224697200-224699200	Enhancers	K562	blood
45	chr1:224697200-224699200	Enhancers	NHEK	skin
46	chr1:224697200-224699400	Enhancers	Fetal Thymus	thymus
47	chr1:224697200-224699400	Enhancers	NHLF	lung
48	chr1:224697200-224699600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:224697200-224702200	Enhancers	Dnd41	blood
50	chr1:224697400-224697600	Enhancers	Fetal Muscle Trunk	muscle

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