Variant report

Variant	rs11803731
Chromosome Location	chr1:152083325-152083326
allele	A/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:152008020..152010755-chr1:152080954..152084659,4	MCF-7	breast:
2	chr1:152083017..152085583-chr1:152100837..152102979,2	MCF-7	breast:
3	chr1:152054917..152058416-chr1:152081485..152084438,3	MCF-7	breast:
4	chr1:152082811..152085581-chr1:152092472..152094632,2	MCF-7	breast:
5	chr1:152025430..152028089-chr1:152082094..152084802,2	MCF-7	breast:
6	chr1:152042308..152047029-chr1:152081777..152083465,4	MCF-7	breast:
7	chr1:152083046..152085813-chr1:152103196..152106111,3	MCF-7	breast:
8	chr1:152082126..152084401-chr1:152135416..152137252,2	MCF-7	breast:
9	chr1:152064256..152066626-chr1:152081752..152084495,3	MCF-7	breast:
10	chr1:152023393..152025689-chr1:152081392..152083739,7	MCF-7	breast:
11	chr1:152081901..152084932-chr1:152421607..152423575,3	MCF-7	breast:
12	chr1:152014593..152017230-chr1:152082456..152084502,3	MCF-7	breast:
13	chr1:152020825..152023230-chr1:152081998..152084966,2	MCF-7	breast:
14	chr1:152058557..152062058-chr1:152082903..152085603,4	MCF-7	breast:
15	chr1:152078746..152081209-chr1:152082799..152085441,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000163191	Chromatin interaction
ENSG00000182898	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12082156	1.00[ASN][1000 genomes]
rs12123975	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12130862	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134184	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17646946	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34687484	1.00[ASN][1000 genomes]
rs34974291	1.00[ASN][1000 genomes]
rs36010924	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845418	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71625168	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv872442	chr1:152054120-152187641	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv438037	chr1:152079989-152084039	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Hair morphology	19896111	GWAS catalog

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152079800-152084400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:152079800-152085400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:152079800-152085400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
4	chr1:152080000-152083800	ZNF genes & repeats	HSMM	muscle
5	chr1:152080000-152085000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
6	chr1:152080000-152085600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:152080800-152084400	Flanking Bivalent TSS/Enh	Placenta	Placenta
8	chr1:152081400-152084400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
9	chr1:152081400-152085200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
10	chr1:152081400-152085400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:152081600-152083800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
12	chr1:152081600-152085200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:152081600-152085400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
14	chr1:152081800-152083400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
15	chr1:152081800-152083600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:152081800-152084400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:152081800-152084400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:152081800-152084400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
19	chr1:152081800-152084400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
20	chr1:152081800-152084400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
21	chr1:152082000-152083600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
22	chr1:152082000-152084200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
23	chr1:152082000-152084400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
24	chr1:152082000-152084400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
25	chr1:152082200-152084400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr1:152082200-152084400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
27	chr1:152082200-152084400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
28	chr1:152082200-152085000	Active TSS	Brain Anterior Caudate	brain
29	chr1:152082200-152085400	Flanking Active TSS	Right Ventricle	heart
30	chr1:152082400-152084400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:152082400-152084400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:152082400-152084400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
33	chr1:152082400-152084400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
34	chr1:152082400-152084400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
35	chr1:152082400-152085000	Flanking Active TSS	HMEC	breast
36	chr1:152082400-152085400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr1:152082600-152083400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:152082600-152083400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
39	chr1:152082600-152083600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
40	chr1:152082600-152083600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
41	chr1:152082600-152083600	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
42	chr1:152082600-152083800	Bivalent/Poised TSS	Thymus	Thymus
43	chr1:152082600-152084000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr1:152082600-152084000	Bivalent/Poised TSS	Aorta	Aorta
45	chr1:152082600-152084200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
46	chr1:152082600-152084400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:152082600-152084400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
48	chr1:152082600-152085000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr1:152082800-152083400	Active TSS	Left Ventricle	heart
50	chr1:152082800-152083600	Bivalent/Poised TSS	Psoas Muscle	Psoas

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