Variant report

Variant	rs236345
Chromosome Location	chr1:94078440-94078441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94076543..94079128-chr1:94244196..94245876,2	MCF-7	breast:
2	chr1:94048472..94052407-chr1:94077212..94082015,4	MCF-7	breast:
3	chr1:94076613..94078527-chr1:94088033..94090133,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs236306	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs236307	0.85[EUR][1000 genomes]
rs236308	0.88[EUR][1000 genomes]
rs236311	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs236312	0.83[EUR][1000 genomes]
rs236343	0.80[AMR][1000 genomes]
rs236344	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs368888	0.83[EUR][1000 genomes]
rs423493	0.84[EUR][1000 genomes]
rs798213	0.83[EUR][1000 genomes]
rs798217	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs798218	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:94060200-94078800	Weak transcription	Colonic Mucosa	Colon
3	chr1:94061200-94078800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:94066400-94079200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:94066400-94079600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:94068200-94079200	Genic enhancers	HSMM	muscle
7	chr1:94070800-94079200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:94071600-94079400	Weak transcription	Small Intestine	intestine
9	chr1:94071800-94079200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:94071800-94079800	Weak transcription	Fetal Kidney	kidney
11	chr1:94072200-94079000	Enhancers	NHDF-Ad	bronchial
12	chr1:94072200-94079400	Weak transcription	Fetal Intestine Large	intestine
13	chr1:94072600-94078800	Enhancers	Fetal Muscle Leg	muscle
14	chr1:94073600-94079200	Genic enhancers	HMEC	breast
15	chr1:94074600-94078800	Weak transcription	Fetal Lung	lung
16	chr1:94074600-94079400	Weak transcription	Pancreas	Pancrea
17	chr1:94074800-94078600	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:94074800-94079200	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:94075000-94079200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr1:94075000-94079200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:94075200-94079400	Weak transcription	Esophagus	oesophagus
22	chr1:94075400-94078800	Weak transcription	Ovary	ovary
23	chr1:94075400-94079200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:94075400-94079800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:94075400-94080000	Weak transcription	Fetal Thymus	thymus
26	chr1:94075600-94078800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:94075600-94079200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:94075600-94079600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:94075600-94079800	Weak transcription	Lung	lung
30	chr1:94075600-94080600	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:94075800-94078600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:94075800-94078600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:94075800-94079000	Weak transcription	Brain Angular Gyrus	brain
34	chr1:94075800-94079200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr1:94075800-94079200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:94075800-94079200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:94075800-94079400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr1:94075800-94081400	Strong transcription	Hela-S3	cervix
39	chr1:94076000-94078600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:94076000-94078600	Weak transcription	Fetal Intestine Small	intestine
41	chr1:94076000-94078600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr1:94076000-94079200	Weak transcription	Placenta	Placenta
43	chr1:94076000-94079400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:94076000-94079400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:94076000-94080000	Strong transcription	NHEK	skin
46	chr1:94076000-94080800	Weak transcription	HUVEC	blood vessel
47	chr1:94076200-94079400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:94076200-94080600	Genic enhancers	A549	lung
49	chr1:94076600-94079000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:94076800-94079000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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