Variant report

Variant	rs11205255
Chromosome Location	chr1:153234602-153234603
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	chr1:153234471..153235981-chr1:153239092..153241290,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1329097	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7520243	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526335	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7532289	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs943967	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
2	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
3	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
4	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
5	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
6	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
7	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv1003014	chr1:153209833-153263691	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv535172	chr1:153209833-153263691	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv998032	chr1:153210770-153264131	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3397000	chr1:153232553-153235701	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3492670	chr1:153232803-153235301	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3492671	chr1:153232803-153235301	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153233200-153234800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:153233200-153234800	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr1:153233200-153235000	Enhancers	Spleen	Spleen
4	chr1:153233400-153235000	Flanking Bivalent TSS/Enh	HMEC	breast
5	chr1:153233800-153234800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:153233800-153234800	Bivalent/Poised TSS	A549	lung
7	chr1:153233800-153235000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:153234000-153234800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
9	chr1:153234000-153234800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
10	chr1:153234000-153235000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:153234000-153235000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
12	chr1:153234000-153235000	Bivalent Enhancer	Small Intestine	intestine
13	chr1:153234200-153234800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:153234200-153234800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
15	chr1:153234200-153234800	Bivalent Enhancer	Placenta	Placenta
16	chr1:153234200-153235000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
17	chr1:153234200-153235000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
18	chr1:153234200-153235000	Bivalent Enhancer	Stomach Mucosa	stomach
19	chr1:153234200-153235400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
20	chr1:153234200-153235600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
21	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
22	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
23	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr1:153234400-153234800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
26	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
27	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
28	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
29	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
30	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
32	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
33	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
34	chr1:153234400-153234800	Bivalent Enhancer	Fetal Heart	heart
35	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
36	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
37	chr1:153234400-153234800	Enhancers	Gastric	stomach
38	chr1:153234400-153234800	Bivalent Enhancer	Left Ventricle	heart
39	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
40	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
41	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	Thymus	Thymus
42	chr1:153234400-153234800	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
43	chr1:153234400-153234800	Bivalent Enhancer	Osteobl	bone
44	chr1:153234400-153235000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr1:153234400-153235000	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:153234400-153235000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
47	chr1:153234400-153235000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
48	chr1:153234400-153235000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
49	chr1:153234400-153235000	Enhancers	Pancreas	Pancrea
50	chr1:153234400-153235000	Flanking Bivalent TSS/Enh	NHEK	skin

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