Variant report

Variant	rs11204922
Chromosome Location	chr1:151961575-151961576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151960436..151963988-chr1:151965129..151968097,4	K562	blood:
2	chr1:151961486..151963073-chr4:87925886..87928690,2	MCF-7	breast:
3	chr1:151512000..151514294-chr1:151960120..151963735,4	MCF-7	breast:
4	chr1:151740883..151742430-chr1:151959978..151962175,2	MCF-7	breast:
5	chr1:151429705..151431670-chr1:151961220..151963038,2	MCF-7	breast:
6	chr1:151879131..151885542-chr1:151961269..151968730,13	MCF-7	breast:
7	chr1:151937625..151940407-chr1:151960051..151962208,2	K562	blood:
8	chr1:151957047..151958820-chr1:151961380..151963425,2	K562	blood:
9	chr1:151958312..151964069-chr1:151964449..151968550,6	K562	blood:
10	chr1:151940500..151941079-chr1:151961205..151961964,2	MCF-7	breast:
11	chr1:151958520..151979218-chr1:151992734..152014750,97	MCF-7	breast:
12	chr1:151912465..151914455-chr1:151961361..151962875,2	K562	blood:
13	chr1:151903606..151908213-chr1:151959560..151963672,4	MCF-7	breast:
14	chr1:151864865..151867501-chr1:151960955..151964248,3	MCF-7	breast:
15	chr1:151880619..151883226-chr1:151961289..151965303,4	K562	blood:
16	chr1:151955991..151958464-chr1:151959511..151962330,2	K562	blood:
17	chr1:151917185..151918906-chr1:151960945..151963030,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000229021	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000172493	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000249602	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000143367	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1038747	0.89[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs10788817	0.81[JPT][hapmap]
rs10788820	0.81[JPT][hapmap]
rs11204915	0.81[JPT][hapmap]
rs11542015	0.86[ASN][1000 genomes]
rs11589720	0.92[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12083193	0.90[CHB][hapmap]
rs12116923	0.82[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs12410789	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1387833	0.81[JPT][hapmap]
rs1532133	0.86[CHB][hapmap]
rs16833668	0.81[CHB][hapmap]
rs16833728	0.86[CHB][hapmap]
rs16833743	0.86[CHB][hapmap]
rs1979637	0.80[CHB][hapmap]
rs2279501	0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2279502	0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs2337689	0.83[ASN][1000 genomes]
rs2338019	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2932570	0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2932574	0.82[ASN][1000 genomes]
rs2932579	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2932581	0.89[ASN][1000 genomes]
rs2932583	0.86[ASN][1000 genomes]
rs2932586	0.86[ASN][1000 genomes]
rs2932590	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2999508	0.89[ASN][1000 genomes]
rs2999512	0.89[ASN][1000 genomes]
rs2999526	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2999528	0.91[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2999531	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2999534	0.86[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs2999539	0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs2999542	0.81[JPT][hapmap]
rs2999544	0.81[JPT][hapmap]
rs2999560	0.85[ASN][1000 genomes]
rs2999561	0.82[ASN][1000 genomes]
rs3007670	0.85[JPT][hapmap]
rs3007685	0.81[JPT][hapmap]
rs3007691	0.86[ASN][1000 genomes]
rs3007708	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3007711	0.81[JPT][hapmap]
rs3791153	0.86[CHB][hapmap]
rs6587635	0.82[CHB][hapmap]
rs6587636	0.82[CHB][hapmap]
rs6587637	0.80[CHB][hapmap]
rs6587638	0.85[CHB][hapmap]
rs6587640	0.90[CHB][hapmap]
rs6662611	0.82[CHB][hapmap]
rs6663064	0.81[CHB][hapmap]
rs6678672	0.90[CHB][hapmap]
rs6686874	0.81[CHB][hapmap]
rs6703465	0.82[CHB][hapmap]
rs7541099	0.86[CHB][hapmap]
rs902313	0.86[CHB][hapmap]
rs971887	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases
5	nsv2855	chr1:151936470-151966381	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	85 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151949200-151963200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr1:151951000-151961800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:151951800-151961800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:151955800-151961600	Weak transcription	Brain Anterior Caudate	brain
5	chr1:151956600-151961600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:151957200-151961600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:151957800-151961800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:151958000-151961600	Weak transcription	Aorta	Aorta
9	chr1:151958600-151961800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:151958600-151963800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:151958800-151961800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:151959200-151964200	Enhancers	Placenta	Placenta
13	chr1:151959200-151964200	Weak transcription	Dnd41	blood
14	chr1:151959400-151961600	Weak transcription	Liver	Liver
15	chr1:151959400-151962000	Weak transcription	Primary T cells from cord blood	blood
16	chr1:151959800-151962600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:151960200-151963000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr1:151960400-151961600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:151960400-151961600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:151960400-151961600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:151960400-151961600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:151960400-151961600	Enhancers	K562	blood
23	chr1:151960400-151962000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:151960400-151962400	Flanking Active TSS	Hela-S3	cervix
25	chr1:151960400-151962600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr1:151960400-151963200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:151960400-151963600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr1:151960400-151964200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:151960400-151964200	Enhancers	Left Ventricle	heart
30	chr1:151960400-151964800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:151960400-151964800	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr1:151960400-151964800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr1:151960400-151965000	Enhancers	Small Intestine	intestine
34	chr1:151960400-151965600	Transcr. at gene 5' and 3'	NHEK	skin
35	chr1:151960400-151965800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:151960400-151965800	Transcr. at gene 5' and 3'	A549	lung
37	chr1:151960600-151961600	Enhancers	Fetal Heart	heart
38	chr1:151960600-151961600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
39	chr1:151960600-151961600	Enhancers	Rectal Smooth Muscle	rectum
40	chr1:151960600-151962000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:151960600-151962200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:151960600-151962800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr1:151960600-151962800	Flanking Active TSS	HMEC	breast
44	chr1:151960600-151963000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
45	chr1:151960600-151963600	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:151960600-151963600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:151960600-151964200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr1:151960600-151964400	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:151960600-151965000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:151960600-151965400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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