Variant report

Variant	rs72905569
Chromosome Location	chr2:189160636-189160637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr2:189156501-189161129	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr2:189155279-189161412	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189159403..189162059-chr2:189193708..189195307,2	K562	blood:
2	chr2:189155055..189158409-chr2:189159948..189163832,8	K562	blood:
3	chr2:189156064..189158162-chr2:189159992..189162914,5	K562	blood:
4	chr2:189148121..189153367-chr2:189154784..189162424,9	K562	blood:
5	chr2:189159168..189161448-chr2:189298953..189301170,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR561	TF binding region
ENSG00000144366	Chromatin interaction
ENSG00000231689	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:132)

rs_ID	r²[population]
rs10931353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11674292	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11678294	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11678729	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679720	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11680235	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683340	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11683969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11685495	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11686476	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687577	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11689113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11691788	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11692575	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs11693105	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11694636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695469	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12151778	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12185535	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12185546	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12185596	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12185714	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12989776	0.86[EUR][1000 genomes]
rs13393442	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59668663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72895717	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72895720	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72895723	0.86[EUR][1000 genomes]
rs72895727	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72895728	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72895740	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72895757	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72897930	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72897939	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72901578	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901590	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901594	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903509	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903511	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903524	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903526	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903527	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903532	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903537	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903560	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905551	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905578	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905586	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907691	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907969	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72907970	0.86[EUR][1000 genomes]
rs72907987	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909505	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909509	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909527	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909536	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909545	1.00[ASN][1000 genomes]
rs72909549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909559	1.00[EUR][1000 genomes]
rs72909566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72909876	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909889	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909891	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909893	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72909895	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911497	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72911709	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911710	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911713	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911720	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911722	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911724	0.86[EUR][1000 genomes]
rs72911729	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911733	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911739	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911740	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911751	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911762	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911775	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911777	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911779	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911782	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72911793	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs72913327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913360	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72913365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7423329	0.93[EUR][1000 genomes]
rs7579593	1.00[EUR][1000 genomes]
rs9288154	1.00[EUR][1000 genomes];1.00[ASN][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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189155200-189161800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:189155400-189160800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:189155400-189161000	Active TSS	Aorta	Aorta
4	chr2:189155400-189161200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:189155400-189161200	Active TSS	K562	blood
6	chr2:189155400-189161600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:189155600-189161200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr2:189155600-189161600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:189155600-189161800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr2:189155800-189161200	Active TSS	Placenta	Placenta
11	chr2:189155800-189161200	Active TSS	A549	lung
12	chr2:189155800-189161400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr2:189156000-189161000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:189156000-189161200	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr2:189156000-189161600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:189156200-189160800	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr2:189158000-189163600	Weak transcription	Lung	lung
18	chr2:189158200-189161400	Flanking Active TSS	HUVEC	blood vessel
19	chr2:189158400-189160800	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr2:189159000-189161600	Active TSS	Fetal Brain Female	brain
21	chr2:189159000-189163600	Weak transcription	Pancreas	Pancrea
22	chr2:189159000-189168000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr2:189159000-189168000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:189159200-189160800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr2:189159200-189161000	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:189159200-189163400	Weak transcription	Stomach Mucosa	stomach
27	chr2:189159200-189168000	Weak transcription	Psoas Muscle	Psoas
28	chr2:189159200-189171200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:189159400-189160800	Weak transcription	Brain Germinal Matrix	brain
30	chr2:189159600-189161000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:189159800-189160800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:189160000-189161000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:189160000-189172800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:189160200-189160800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:189160200-189160800	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr2:189160200-189161000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:189160200-189161000	Weak transcription	Fetal Kidney	kidney
38	chr2:189160200-189161200	Enhancers	Fetal Intestine Small	intestine
39	chr2:189160200-189163600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr2:189160200-189163600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:189160200-189167800	Weak transcription	Colon Smooth Muscle	Colon
42	chr2:189160200-189168200	Weak transcription	HMEC	breast
43	chr2:189160400-189160800	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr2:189160400-189160800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:189160400-189161200	Enhancers	Fetal Intestine Large	intestine
46	chr2:189160400-189161200	Enhancers	Fetal Lung	lung
47	chr2:189160400-189171000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:189160600-189161800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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