Variant report

Variant	rs72636760
Chromosome Location	chr1:94052230-94052231
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	chr1:94048472..94052407-chr1:94077212..94082015,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs11080624	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11080626	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11080627	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11080628	0.81[ASN][1000 genomes]
rs11659468	0.92[EUR][1000 genomes]
rs11660908	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11661802	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11662528	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11663369	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11663399	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11663455	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11663521	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11663778	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11664958	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11665378	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11665394	0.92[EUR][1000 genomes]
rs12604624	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12606033	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12607152	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607203	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607323	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12607329	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12607661	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12607682	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282542	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3786160	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3786162	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3786163	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3786164	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3809907	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809908	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56913743	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57292913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57448401	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57906042	0.92[EUR][1000 genomes]
rs58158805	0.91[EUR][1000 genomes]
rs58322002	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58343237	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs58554306	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58558999	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58820551	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59278606	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs59557962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59962936	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60015020	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60281669	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60444886	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60669993	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60685477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60710487	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs60827697	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60945352	0.83[AMR][1000 genomes]
rs60989271	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61364693	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62095829	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs66470739	0.92[EUR][1000 genomes]
rs66494849	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6650609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650616	0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6650617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66559751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66685204	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66688868	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66929859	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs66935882	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67084247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67258461	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67334724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67357574	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67432911	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67565680	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs67675517	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67765196	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67838921	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs67863818	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67868710	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67955156	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68051414	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs68169869	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7228940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7233578	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7236172	0.95[EUR][1000 genomes]
rs7236987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7243276	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7243536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243597	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72636759	0.85[AMR][1000 genomes]
rs72636761	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8084728	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8088543	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8090759	0.92[EUR][1000 genomes]
rs8091992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8092992	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8093363	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8093650	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8094351	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9952452	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94025600-94073800	Weak transcription	Fetal Brain Female	brain
2	chr1:94031800-94052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:94032000-94053600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr1:94038400-94054000	Weak transcription	Brain Substantia Nigra	brain
5	chr1:94038400-94054800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:94038600-94054200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr1:94040000-94055000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:94041800-94059400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:94042000-94054800	Weak transcription	Primary B cells from cord blood	blood
10	chr1:94042200-94063200	Weak transcription	Brain Germinal Matrix	brain
11	chr1:94042800-94053000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:94043000-94058400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:94045400-94053600	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:94046600-94058200	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:94047200-94053600	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr1:94047400-94053400	Strong transcription	HUVEC	blood vessel
17	chr1:94048200-94054600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:94048200-94059200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:94048200-94059400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:94048400-94053200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:94048400-94059600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:94048600-94064200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr1:94048800-94053800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:94049600-94052600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:94049600-94053600	Enhancers	Fetal Heart	heart
26	chr1:94049600-94059400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr1:94049800-94052600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:94049800-94052600	Genic enhancers	HMEC	breast
29	chr1:94050000-94054800	Weak transcription	GM12878-XiMat	blood
30	chr1:94050000-94056200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:94050000-94059400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr1:94050400-94053000	Weak transcription	Gastric	stomach
33	chr1:94050400-94053000	Genic enhancers	NHEK	skin
34	chr1:94050600-94055600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:94050800-94052800	Weak transcription	Right Ventricle	heart
36	chr1:94050800-94053000	Enhancers	Fetal Intestine Large	intestine
37	chr1:94050800-94053000	Enhancers	Fetal Intestine Small	intestine
38	chr1:94050800-94053000	Weak transcription	Fetal Stomach	stomach
39	chr1:94050800-94053800	Weak transcription	Spleen	Spleen
40	chr1:94050800-94054600	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:94050800-94057800	Weak transcription	Small Intestine	intestine
42	chr1:94050800-94059200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr1:94051000-94052800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr1:94051000-94053000	Weak transcription	Esophagus	oesophagus
45	chr1:94051000-94053400	Weak transcription	Ovary	ovary
46	chr1:94051000-94053400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:94051000-94054200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:94051000-94056800	Weak transcription	Fetal Thymus	thymus
49	chr1:94051200-94052400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:94051200-94052400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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