Variant report

Variant	rs235911
Chromosome Location	chr1:171563406-171563407
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	chr1:171556792..171560985-chr1:171562701..171566084,6	K562	blood:

Variant related genes	Relation type
ENSG00000117523	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1055417	0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs10913167	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12129856	0.80[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12131694	0.80[EUR][1000 genomes]
rs12136576	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12137832	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12139715	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12142594	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12145045	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12146022	0.81[EUR][1000 genomes]
rs12733939	0.80[EUR][1000 genomes]
rs12734261	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12759907	0.80[EUR][1000 genomes]
rs171005	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183533	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs190198	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2294292	0.86[EUR][1000 genomes]
rs2294293	0.86[EUR][1000 genomes]
rs235471	0.80[ASN][1000 genomes]
rs235472	0.80[ASN][1000 genomes]
rs235488	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs235495	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs235498	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235502	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235507	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235865	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235886	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235892	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235893	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235895	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235897	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs235898	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235899	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235900	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235901	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235902	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235903	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235904	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235910	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs235912	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28661007	1.00[ASN][1000 genomes]
rs46407	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536753	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559739	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56207586	0.80[EUR][1000 genomes]
rs591286	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631259	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67133611	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71637418	0.80[ASN][1000 genomes]
rs71637419	0.80[ASN][1000 genomes]
rs74122850	0.80[EUR][1000 genomes]
rs7534464	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7534557	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7538745	0.87[EUR][1000 genomes];0.85[ASN][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	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171521600-171563800	Strong transcription	Rectal Mucosa Donor 29	rectum
2	chr1:171522600-171564000	Strong transcription	Duodenum Mucosa	Duodenum
3	chr1:171522800-171564000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:171522800-171564200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr1:171522800-171564400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:171524200-171564400	Strong transcription	Adipose Nuclei	Adipose
7	chr1:171524400-171563600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr1:171524400-171564400	Strong transcription	Fetal Thymus	thymus
9	chr1:171524400-171564600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:171524400-171566400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:171525200-171564000	Strong transcription	HUVEC	blood vessel
12	chr1:171525400-171563600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr1:171525600-171563800	Strong transcription	HSMM	muscle
14	chr1:171525800-171564400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:171528200-171563800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:171528400-171564600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:171528600-171564400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:171529400-171564800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:171529600-171563600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:171529600-171566200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:171531200-171563600	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr1:171532600-171564200	Strong transcription	Placenta	Placenta
23	chr1:171533000-171564000	Strong transcription	Fetal Intestine Large	intestine
24	chr1:171539000-171565000	Strong transcription	Primary T cells from cord blood	blood
25	chr1:171539600-171565200	Weak transcription	Fetal Heart	heart
26	chr1:171540000-171564000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:171540600-171563600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:171543400-171563800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr1:171543600-171564000	Strong transcription	Fetal Muscle Leg	muscle
30	chr1:171543600-171564800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:171552200-171564000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:171554400-171568400	Weak transcription	Psoas Muscle	Psoas
33	chr1:171555200-171564000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:171555600-171564000	Strong transcription	NHEK	skin
35	chr1:171555800-171564000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:171556000-171564000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr1:171556000-171564800	Strong transcription	Primary B cells from cord blood	blood
38	chr1:171556800-171567600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr1:171558800-171564600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:171558800-171573200	Weak transcription	Small Intestine	intestine
41	chr1:171559400-171563600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:171559400-171564200	Strong transcription	Osteobl	bone
43	chr1:171559600-171563600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:171559600-171563600	Weak transcription	Stomach Mucosa	stomach
45	chr1:171559600-171564400	Strong transcription	NH-A	brain
46	chr1:171559600-171564600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:171560200-171564200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:171560200-171564600	Strong transcription	Fetal Stomach	stomach
49	chr1:171560600-171564000	Strong transcription	A549	lung
50	chr1:171561200-171565000	Weak transcription	Rectal Smooth Muscle	rectum

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