Variant report

Variant	rs11166118
Chromosome Location	chr1:92546117-92546118
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	chr1:92529998..92532866-chr1:92545519..92547678,2	MCF-7	breast:
2	chr1:92494787..92497358-chr1:92544717..92548251,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233228	Chromatin interaction
ENSG00000172031	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11166022	1.00[EUR][1000 genomes]
rs11166028	1.00[EUR][1000 genomes]
rs11166030	1.00[EUR][1000 genomes]
rs11166044	1.00[EUR][1000 genomes]
rs11166045	1.00[EUR][1000 genomes]
rs11166066	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11166068	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11166107	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11166189	1.00[EUR][1000 genomes]
rs11166200	1.00[EUR][1000 genomes]
rs11166203	1.00[EUR][1000 genomes]
rs11166390	1.00[EUR][1000 genomes]
rs11166543	1.00[EUR][1000 genomes]
rs12057625	1.00[EUR][1000 genomes]
rs12058147	1.00[EUR][1000 genomes]
rs12059439	1.00[EUR][1000 genomes]
rs12061480	1.00[EUR][1000 genomes]
rs12061953	1.00[EUR][1000 genomes]
rs12063404	1.00[EUR][1000 genomes]
rs12064015	1.00[EUR][1000 genomes]
rs12065626	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12065694	1.00[EUR][1000 genomes]
rs12066980	1.00[EUR][1000 genomes]
rs12067302	1.00[EUR][1000 genomes]
rs12069690	1.00[EUR][1000 genomes]
rs12070249	1.00[EUR][1000 genomes]
rs12071088	1.00[EUR][1000 genomes]
rs12073274	1.00[EUR][1000 genomes]
rs12074384	1.00[EUR][1000 genomes]
rs12076399	1.00[EUR][1000 genomes]
rs12078738	1.00[EUR][1000 genomes]
rs12080119	1.00[EUR][1000 genomes]
rs12080220	1.00[EUR][1000 genomes]
rs12080525	1.00[EUR][1000 genomes]
rs12085789	1.00[EUR][1000 genomes]
rs12086354	1.00[EUR][1000 genomes]
rs12086426	1.00[EUR][1000 genomes]
rs12087282	1.00[EUR][1000 genomes]
rs12088549	1.00[EUR][1000 genomes]
rs12090217	1.00[EUR][1000 genomes]
rs12093038	1.00[EUR][1000 genomes]
rs12093590	1.00[EUR][1000 genomes]
rs12093905	1.00[EUR][1000 genomes]
rs12095429	1.00[EUR][1000 genomes]
rs12096979	1.00[EUR][1000 genomes]
rs12097184	1.00[EUR][1000 genomes]
rs1483020	1.00[EUR][1000 genomes]
rs1483021	1.00[EUR][1000 genomes]
rs1487538	1.00[EUR][1000 genomes]
rs17131601	1.00[EUR][1000 genomes]
rs17131604	1.00[EUR][1000 genomes]
rs17131606	1.00[EUR][1000 genomes]
rs17131614	1.00[EUR][1000 genomes]
rs2046297	1.00[EUR][1000 genomes]
rs2170644	1.00[EUR][1000 genomes]
rs2799528	1.00[EUR][1000 genomes]
rs35428675	1.00[EUR][1000 genomes]
rs57820459	1.00[EUR][1000 genomes]
rs59366523	1.00[EUR][1000 genomes]
rs72956818	1.00[EUR][1000 genomes]
rs72956832	1.00[EUR][1000 genomes]
rs72956833	1.00[EUR][1000 genomes]
rs72956863	1.00[EUR][1000 genomes]
rs72956874	1.00[EUR][1000 genomes]
rs72956893	1.00[EUR][1000 genomes]
rs72958765	1.00[EUR][1000 genomes]
rs72958768	1.00[EUR][1000 genomes]
rs72958786	1.00[EUR][1000 genomes]
rs72958791	1.00[EUR][1000 genomes]
rs7552286	1.00[EUR][1000 genomes]
rs9660398	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv949449	chr1:92211020-92585831	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv524845	chr1:92215725-92598705	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv462517	chr1:92215725-92598705	Weak transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv546810	chr1:92215725-92598705	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv1006318	chr1:92216408-92608324	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv432498	chr1:92218245-92618323	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv1004570	chr1:92220544-92622129	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv1007661	chr1:92220544-92655952	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1014837	chr1:92233905-92618839	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv535031	chr1:92233905-92618839	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
16	nsv1012134	chr1:92235485-92598800	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv546818	chr1:92236048-92579206	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv546819	chr1:92256626-92558583	Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv546820	chr1:92273644-92558583	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv530046	chr1:92277460-92799794	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
21	nsv1007270	chr1:92289298-92598800	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv1002730	chr1:92302541-92565229	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
23	nsv871415	chr1:92340684-92641607	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
24	esv2750842	chr1:92356781-92579675	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
25	nsv871144	chr1:92380302-92641607	Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
26	nsv1008863	chr1:92441031-92567045	Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
27	nsv535032	chr1:92441031-92567045	ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
28	nsv871508	chr1:92478130-92781579	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
29	nsv1009079	chr1:92525630-92595669	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
30	nsv546821	chr1:92525678-92650349	ZNF genes & repeats Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92545200-92546800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:92545200-92546800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:92545200-92546800	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:92545200-92546800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:92545200-92546800	Active TSS	Brain Anterior Caudate	brain
6	chr1:92545200-92546800	Active TSS	Brain Hippocampus Middle	brain
7	chr1:92545200-92546800	Active TSS	Colon Smooth Muscle	Colon
8	chr1:92545200-92547000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr1:92545200-92547000	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:92545200-92547000	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:92545200-92547000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:92545200-92547000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:92545200-92547000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:92545200-92547000	Active TSS	Brain Cingulate Gyrus	brain
15	chr1:92545200-92547000	Active TSS	Brain Substantia Nigra	brain
16	chr1:92545200-92547000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:92545200-92547000	Active TSS	Stomach Smooth Muscle	stomach
18	chr1:92545200-92547200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:92545400-92546200	Active TSS	Primary hematopoietic stem cells short term culture	blood
20	chr1:92545400-92546400	Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr1:92545400-92546400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:92545400-92546400	Active TSS	Fetal Muscle Leg	muscle
23	chr1:92545400-92546400	Active TSS	HSMM	muscle
24	chr1:92545400-92546600	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr1:92545400-92546600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:92545400-92546600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr1:92545400-92546600	Active TSS	Esophagus	oesophagus
28	chr1:92545400-92546600	Active TSS	Placenta	Placenta
29	chr1:92545400-92546600	Active TSS	Left Ventricle	heart
30	chr1:92545400-92546600	Active TSS	Pancreas	Pancrea
31	chr1:92545400-92546600	Active TSS	HSMMtube	muscle
32	chr1:92545400-92546600	Active TSS	K562	blood
33	chr1:92545400-92546800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:92545400-92546800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr1:92545400-92546800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr1:92545400-92546800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:92545400-92546800	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr1:92545400-92546800	Active TSS	Primary T cells from cord blood	blood
39	chr1:92545400-92546800	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr1:92545400-92546800	Active TSS	Fetal Brain Male	brain
41	chr1:92545400-92546800	Active TSS	Fetal Intestine Large	intestine
42	chr1:92545400-92546800	Active TSS	Fetal Intestine Small	intestine
43	chr1:92545400-92546800	Active TSS	Fetal Kidney	kidney
44	chr1:92545400-92546800	Active TSS	Fetal Lung	lung
45	chr1:92545400-92546800	Active TSS	Fetal Stomach	stomach
46	chr1:92545400-92546800	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr1:92545400-92546800	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr1:92545400-92546800	Active TSS	Rectal Smooth Muscle	rectum
49	chr1:92545400-92546800	Active TSS	Right Ventricle	heart
50	chr1:92545400-92546800	Active TSS	Skeletal Muscle Female	skeletal muscle

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