Variant report

Variant	rs3765227
Chromosome Location	chr1:169437153-169437154
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169434628..169437236-chr1:169437830..169439900,2	K562	blood:
2	chr1:169428402..169430662-chr1:169436223..169440016,3	MCF-7	breast:
3	chr1:169436332..169438093-chr1:169441418..169443400,2	K562	blood:
4	chr1:169436854..169438474-chr1:169453812..169456022,2	MCF-7	breast:
5	chr1:169435618..169443312-chr1:169452571..169456844,11	MCF-7	breast:
6	chr1:169434650..169437970-chr1:169438181..169441761,3	MCF-7	breast:
7	chr1:169437031..169439523-chr1:169451162..169453352,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117477	Chromatin interaction
ENSG00000234604	Chromatin interaction
ENSG00000213062	Chromatin interaction
ENSG00000234437	Chromatin interaction
ENSG00000117479	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10047168	0.89[ASN][1000 genomes]
rs10800430	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap]
rs10800436	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10800443	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10800445	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10919151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10919152	0.92[ASN][1000 genomes]
rs10919156	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs10919157	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10919159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11487548	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11810815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs12059944	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12061080	1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs12065030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12071630	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12073439	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12074966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081030	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12091133	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12091844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12092506	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12092952	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12094791	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12097682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12561922	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12565852	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2038024	0.81[ASN][1000 genomes]
rs2275300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs2280257	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2901092	1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs3737683	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3766088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs41272453	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9628661	1.00[CEU][hapmap];1.00[YRI][hapmap]

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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1001454	chr1:169387381-169465274	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1005941	chr1:169410486-169456393	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169429600-169448200	Weak transcription	Fetal Heart	heart
2	chr1:169429800-169446400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr1:169430000-169443800	Weak transcription	Brain Substantia Nigra	brain
4	chr1:169430000-169444800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:169430000-169445600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:169430000-169445600	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:169430000-169446200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr1:169430000-169446200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:169430000-169446200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:169430000-169446400	Weak transcription	HUVEC	blood vessel
11	chr1:169430000-169450000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:169430000-169452000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:169430000-169452000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:169430000-169452600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:169430000-169452800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:169430000-169452800	Weak transcription	Brain Germinal Matrix	brain
17	chr1:169430000-169452800	Weak transcription	HMEC	breast
18	chr1:169430000-169452800	Weak transcription	NHDF-Ad	bronchial
19	chr1:169430000-169452800	Weak transcription	NHEK	skin
20	chr1:169430000-169453400	Weak transcription	Colonic Mucosa	Colon
21	chr1:169430000-169453800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr1:169430000-169454000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:169430000-169454400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:169430000-169454400	Weak transcription	Spleen	Spleen
25	chr1:169430200-169442600	Weak transcription	Gastric	stomach
26	chr1:169430200-169444800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:169430200-169445400	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:169430200-169445600	Weak transcription	Fetal Intestine Small	intestine
29	chr1:169430200-169445600	Weak transcription	Fetal Stomach	stomach
30	chr1:169430200-169446200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:169430200-169446200	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:169430200-169446200	Weak transcription	Lung	lung
33	chr1:169430200-169446200	Weak transcription	Pancreas	Pancrea
34	chr1:169430200-169446400	Weak transcription	Thymus	Thymus
35	chr1:169430200-169450600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:169430200-169451800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:169430200-169452600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:169430200-169452600	Weak transcription	NH-A	brain
39	chr1:169430200-169453200	Weak transcription	Esophagus	oesophagus
40	chr1:169430600-169446200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:169430600-169446200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:169430600-169452800	Weak transcription	Small Intestine	intestine
43	chr1:169430800-169446200	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:169431200-169446800	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:169431200-169452000	Weak transcription	GM12878-XiMat	blood
46	chr1:169431400-169446200	Weak transcription	Fetal Brain Male	brain
47	chr1:169432600-169443000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:169433200-169441800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:169434000-169438800	Strong transcription	HSMM	muscle
50	chr1:169434000-169439600	Strong transcription	Liver	Liver

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