Variant report

Variant	rs72905578
Chromosome Location	chr2:189162895-189162896
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:189155055..189158409-chr2:189159948..189163832,8	K562	blood:
2	chr2:189156064..189158162-chr2:189159992..189162914,5	K562	blood:

Variant related genes	Relation type
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:131)

rs_ID	r²[population]
rs10931353	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931357	1.00[EUR][1000 genomes]
rs11674292	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	0.86[EUR][1000 genomes]
rs11680235	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683340	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683909	1.00[EUR][1000 genomes]
rs11683969	1.00[EUR][1000 genomes]
rs11685495	0.86[EUR][1000 genomes]
rs11686476	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687577	0.86[EUR][1000 genomes]
rs11689113	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11691788	0.86[EUR][1000 genomes]
rs11692575	0.86[EUR][1000 genomes]
rs11693105	1.00[EUR][1000 genomes]
rs11694636	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695469	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151605	1.00[EUR][1000 genomes]
rs12151778	0.86[EUR][1000 genomes]
rs12185535	0.86[EUR][1000 genomes]
rs12185546	0.86[EUR][1000 genomes]
rs12185596	0.86[EUR][1000 genomes]
rs12185714	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[EUR][1000 genomes]
rs72895717	0.86[EUR][1000 genomes]
rs72895720	0.86[EUR][1000 genomes]
rs72895723	0.86[EUR][1000 genomes]
rs72895727	0.86[EUR][1000 genomes]
rs72895728	0.86[EUR][1000 genomes]
rs72895740	0.86[EUR][1000 genomes]
rs72895757	0.86[EUR][1000 genomes]
rs72897930	0.86[EUR][1000 genomes]
rs72897939	0.86[EUR][1000 genomes]
rs72901578	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901590	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901594	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903511	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903526	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903537	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903560	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903582	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903583	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903592	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905551	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905569	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905586	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905596	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905601	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907612	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907614	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907632	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907664	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907686	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907691	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907697	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907970	0.86[EUR][1000 genomes]
rs72907987	0.86[EUR][1000 genomes]
rs72909505	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909509	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909519	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909524	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909525	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909536	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909545	1.00[ASN][1000 genomes]
rs72909549	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909551	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909552	1.00[EUR][1000 genomes]
rs72909553	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909559	1.00[EUR][1000 genomes]
rs72909566	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909568	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909571	1.00[EUR][1000 genomes]
rs72909573	1.00[EUR][1000 genomes]
rs72909575	1.00[EUR][1000 genomes]
rs72909576	1.00[EUR][1000 genomes]
rs72909577	1.00[EUR][1000 genomes]
rs72909579	1.00[EUR][1000 genomes]
rs72909590	1.00[EUR][1000 genomes]
rs72909594	1.00[EUR][1000 genomes]
rs72909595	1.00[EUR][1000 genomes]
rs72909598	1.00[EUR][1000 genomes]
rs72909876	0.86[EUR][1000 genomes]
rs72909889	0.86[EUR][1000 genomes]
rs72909891	0.86[EUR][1000 genomes]
rs72909893	0.86[EUR][1000 genomes]
rs72909895	0.86[EUR][1000 genomes]
rs72911406	1.00[EUR][1000 genomes]
rs72911432	1.00[EUR][1000 genomes]
rs72911439	1.00[EUR][1000 genomes]
rs72911445	1.00[EUR][1000 genomes]
rs72911448	1.00[EUR][1000 genomes]
rs72911463	1.00[EUR][1000 genomes]
rs72911465	1.00[EUR][1000 genomes]
rs72911476	1.00[EUR][1000 genomes]
rs72911497	1.00[EUR][1000 genomes]
rs72911499	1.00[EUR][1000 genomes]
rs72911501	1.00[EUR][1000 genomes]
rs72911709	0.86[EUR][1000 genomes]
rs72911710	0.86[EUR][1000 genomes]
rs72911713	0.86[EUR][1000 genomes]
rs72911720	0.86[EUR][1000 genomes]
rs72911722	0.86[EUR][1000 genomes]
rs72911724	0.86[EUR][1000 genomes]
rs72911729	0.86[EUR][1000 genomes]
rs72911733	0.86[EUR][1000 genomes]
rs72911739	0.86[EUR][1000 genomes]
rs72911740	0.86[EUR][1000 genomes]
rs72911751	0.86[EUR][1000 genomes]
rs72911762	0.86[EUR][1000 genomes]
rs72911775	0.86[EUR][1000 genomes]
rs72911777	0.86[EUR][1000 genomes]
rs72911779	0.86[EUR][1000 genomes]
rs72911782	0.86[EUR][1000 genomes]
rs72911793	0.86[EUR][1000 genomes]
rs72913327	1.00[EUR][1000 genomes]
rs72913360	1.00[EUR][1000 genomes]
rs72913365	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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189158000-189163600	Weak transcription	Lung	lung
2	chr2:189159000-189163600	Weak transcription	Pancreas	Pancrea
3	chr2:189159000-189168000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:189159000-189168000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:189159200-189163400	Weak transcription	Stomach Mucosa	stomach
6	chr2:189159200-189168000	Weak transcription	Psoas Muscle	Psoas
7	chr2:189159200-189171200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:189160000-189172800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr2:189160200-189163600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:189160200-189163600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:189160200-189167800	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:189160200-189168200	Weak transcription	HMEC	breast
13	chr2:189160400-189171000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:189161000-189167400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:189161200-189163400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:189161200-189163400	Weak transcription	A549	lung
17	chr2:189161200-189163600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr2:189161200-189164400	Weak transcription	Fetal Lung	lung
19	chr2:189161200-189167400	Weak transcription	Placenta	Placenta
20	chr2:189161400-189163400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:189161400-189163800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr2:189161400-189167400	Weak transcription	HUVEC	blood vessel
23	chr2:189161600-189163200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr2:189161800-189163000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
25	chr2:189161800-189163400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:189161800-189163800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr2:189161800-189165600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr2:189162000-189163400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:189162400-189163400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr2:189162400-189170000	Weak transcription	Aorta	Aorta
31	chr2:189162600-189163800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
32	chr2:189162800-189163000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:189162800-189163800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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