Variant report

Variant	rs11904758
Chromosome Location	chr2:148640108-148640109
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	chr2:148602161..148604647-chr2:148638788..148641073,2	MCF-7	breast:
2	chr2:148633010..148635372-chr2:148639635..148642238,3	K562	blood:

Variant related genes	Relation type
ENSG00000212389	Chromatin interaction
ENSG00000121989	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs1014064	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1020653	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1030317	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10460259	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10497024	0.98[EUR][1000 genomes]
rs10803523	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1128919	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11884013	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11888152	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11889608	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11901963	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12053113	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12104822	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12463798	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12464617	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12469015	0.89[EUR][1000 genomes]
rs12469504	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12469939	0.91[EUR][1000 genomes]
rs12472058	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12475399	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12479193	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12987286	0.95[EUR][1000 genomes]
rs12989596	0.91[EUR][1000 genomes]
rs12990262	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12990959	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs12997065	0.87[EUR][1000 genomes]
rs12998729	0.99[EUR][1000 genomes]
rs13000597	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13004041	0.91[EUR][1000 genomes]
rs13004451	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13005423	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13006184	0.91[EUR][1000 genomes]
rs13008497	0.95[EUR][1000 genomes]
rs13012311	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13013743	0.95[EUR][1000 genomes]
rs13013867	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13014904	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13014926	0.86[EUR][1000 genomes]
rs13016083	0.89[EUR][1000 genomes]
rs13017754	0.95[EUR][1000 genomes]
rs13019386	0.88[EUR][1000 genomes]
rs13019809	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13021972	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13022319	0.86[EUR][1000 genomes]
rs13025219	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13025589	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13025701	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs13026220	0.95[EUR][1000 genomes]
rs13026650	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13027200	0.91[EUR][1000 genomes]
rs13027706	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13028411	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13031064	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13033589	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13033696	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13034494	0.99[EUR][1000 genomes]
rs13034561	0.88[EUR][1000 genomes]
rs13034793	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1345994	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1364658	0.97[EUR][1000 genomes]
rs1364660	0.87[EUR][1000 genomes]
rs1424944	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1424946	0.88[EUR][1000 genomes]
rs1424949	0.86[EUR][1000 genomes]
rs1424954	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1469210	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1531032	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16855486	0.88[EUR][1000 genomes]
rs1863152	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1863153	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs1895693	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1991169	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2059422	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2161983	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2161985	0.86[EUR][1000 genomes]
rs2288190	0.92[ASN][1000 genomes]
rs2303392	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2307394	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34005843	0.88[EUR][1000 genomes]
rs34539489	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35370215	0.86[EUR][1000 genomes]
rs3764955	0.97[EUR][1000 genomes]
rs3768687	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3768689	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4972272	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4972316	0.88[EUR][1000 genomes]
rs4972317	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4972318	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4972356	0.95[EUR][1000 genomes]
rs4972357	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs57679331	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6430241	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6430242	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs6711673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6729465	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6729997	0.97[EUR][1000 genomes]
rs6734998	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6760703	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs723681	0.97[EUR][1000 genomes]
rs7423878	0.87[AMR][1000 genomes]
rs7559714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7559925	0.99[EUR][1000 genomes]
rs7594075	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7600869	0.89[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs929939	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9679427	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs987122	0.89[AFR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875275	chr2:148166428-148711242	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv916286	chr2:148438001-148977722	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv529388	chr2:148471340-148934846	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv3392562	chr2:148476961-148843061	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148613000-148640800	Weak transcription	Lung	lung
2	chr2:148621600-148641600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:148623600-148642600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:148634600-148641200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr2:148634600-148641800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:148634600-148641800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:148634600-148642400	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:148634600-148642800	Weak transcription	Ovary	ovary
9	chr2:148634600-148668200	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:148635200-148640400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:148635200-148641800	Weak transcription	Liver	Liver
12	chr2:148635600-148645800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:148637200-148641800	Weak transcription	HepG2	liver
14	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
15	chr2:148637400-148654800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:148638600-148641000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr2:148638800-148641400	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:148638800-148641400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:148638800-148642200	Weak transcription	Psoas Muscle	Psoas
20	chr2:148638800-148645200	Weak transcription	Fetal Intestine Small	intestine
21	chr2:148639000-148641400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:148639000-148641600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:148639000-148654800	Weak transcription	Fetal Intestine Large	intestine
24	chr2:148639200-148641800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr2:148639600-148640200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:148639600-148641600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:148639800-148640200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:148639800-148640200	Enhancers	Fetal Heart	heart
29	chr2:148639800-148640200	Enhancers	Right Atrium	heart
30	chr2:148639800-148640400	Enhancers	Left Ventricle	heart
31	chr2:148639800-148641400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:148639800-148641400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:148639800-148641800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:148639800-148646000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:148640000-148640400	Enhancers	Brain Germinal Matrix	brain
36	chr2:148640000-148640600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:148640000-148640600	Enhancers	Stomach Mucosa	stomach
38	chr2:148640000-148641800	Enhancers	Adipose Nuclei	Adipose
39	chr2:148640000-148642800	Enhancers	Fetal Lung	lung

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