Variant report

Variant	rs73092512
Chromosome Location	chr1:227380239-227380240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227373675..227376391-chr1:227377073..227380557,3	K562	blood:
2	chr1:227379953..227381548-chr1:227386329..227389074,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11802565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804315	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11804924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807511	1.00[AMR][1000 genomes]
rs11807555	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807766	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11808055	1.00[EUR][1000 genomes]
rs11808370	1.00[EUR][1000 genomes]
rs11808613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11810417	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1355816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846798	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16846993	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847106	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16847506	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1888829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34413322	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35099852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4364839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55947609	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56168464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57660509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57717956	1.00[EUR][1000 genomes]
rs57895961	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58077821	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59396012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59523055	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59945801	1.00[AMR][1000 genomes]
rs60039374	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60423930	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60906739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61494318	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61588040	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6688385	1.00[EUR][1000 genomes]
rs6696713	1.00[EUR][1000 genomes]
rs6699740	1.00[EUR][1000 genomes]
rs73086744	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087659	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73087695	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088692	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089703	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090609	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73090689	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091744	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094358	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094365	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094366	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73094390	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73096314	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73100303	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102326	1.00[EUR][1000 genomes]
rs73102327	1.00[EUR][1000 genomes]
rs73102341	1.00[EUR][1000 genomes]
rs73102913	1.00[AMR][1000 genomes]
rs73102948	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102965	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7411165	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140237	1.00[AMR][1000 genomes]
rs74143320	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats 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	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
5	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:227333400-227381000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:227333400-227405600	Weak transcription	Adipose Nuclei	Adipose
4	chr1:227343200-227400400	Weak transcription	A549	lung
5	chr1:227346800-227403800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:227346800-227405800	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:227346800-227406800	Weak transcription	Fetal Kidney	kidney
8	chr1:227347800-227385800	Weak transcription	Fetal Intestine Small	intestine
9	chr1:227347800-227390400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:227348200-227398000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:227348200-227398400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:227348200-227401600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:227348200-227408400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:227348200-227412200	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:227355400-227386200	Weak transcription	Brain Anterior Caudate	brain
16	chr1:227359400-227389000	Weak transcription	Right Ventricle	heart
17	chr1:227360800-227401200	Weak transcription	Hela-S3	cervix
18	chr1:227363800-227380600	Weak transcription	Esophagus	oesophagus
19	chr1:227364000-227385800	Weak transcription	Fetal Stomach	stomach
20	chr1:227364200-227381000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr1:227365800-227399400	Weak transcription	Fetal Intestine Large	intestine
22	chr1:227369200-227382600	Weak transcription	Fetal Brain Female	brain
23	chr1:227370000-227413600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr1:227371400-227381000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:227371600-227381600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:227373400-227397800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:227374400-227401600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:227374600-227401600	Weak transcription	Left Ventricle	heart
29	chr1:227374800-227391000	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:227375200-227386800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:227375600-227410800	Weak transcription	HepG2	liver
32	chr1:227376600-227381200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:227376600-227412600	Weak transcription	Fetal Lung	lung
34	chr1:227377000-227388800	Weak transcription	Small Intestine	intestine
35	chr1:227377800-227381000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:227377800-227381800	Strong transcription	HUVEC	blood vessel
37	chr1:227378000-227389400	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:227378400-227401000	Weak transcription	Placenta	Placenta
39	chr1:227379000-227381000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:227379000-227381200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:227379000-227398000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:227379000-227398000	Weak transcription	Liver	Liver
43	chr1:227379200-227380400	Enhancers	Osteobl	bone
44	chr1:227379400-227380400	Enhancers	HSMM	muscle
45	chr1:227379400-227380400	Enhancers	NHDF-Ad	bronchial
46	chr1:227379600-227380400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:227379600-227380400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:227379600-227380400	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:227379600-227380400	Enhancers	HMEC	breast
50	chr1:227379600-227399200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links