Variant report

Variant	rs11265494
Chromosome Location	chr1:160807850-160807851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160805876..160808335-chr1:160811999..160814822,2	K562	blood:
2	chr1:160807406..160807999-chr1:160920889..160921402,2	K562	blood:
3	chr1:160802328..160804621-chr1:160806389..160808035,2	K562	blood:

Variant related genes	Relation type
ENSG00000158764	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11265495	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12060017	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12065420	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12074019	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084061	0.87[AMR][1000 genomes]
rs12354107	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12354108	1.00[AMR][1000 genomes]
rs16832486	0.87[AMR][1000 genomes]
rs16832506	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1822379	chr1:160545332-160831143	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv464161	chr1:160747615-160852046	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv548057	chr1:160747615-160852046	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160793000-160811600	Weak transcription	Gastric	stomach
2	chr1:160803200-160812400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:160803600-160810000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr1:160804800-160809600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:160805000-160809200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:160805000-160809400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr1:160805200-160809000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:160805400-160808000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:160805400-160808600	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:160805600-160808000	Enhancers	Fetal Thymus	thymus
11	chr1:160805600-160809000	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr1:160805600-160809000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:160805600-160809200	Enhancers	Primary B cells from cord blood	blood
14	chr1:160805600-160809200	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:160806000-160808400	Enhancers	HSMMtube	muscle
16	chr1:160806000-160809000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:160806200-160808200	Enhancers	Placenta	Placenta
18	chr1:160806200-160808600	Enhancers	Spleen	Spleen
19	chr1:160806400-160808200	Enhancers	Fetal Heart	heart
20	chr1:160806400-160808400	Enhancers	Fetal Intestine Small	intestine
21	chr1:160806600-160808200	Enhancers	Fetal Muscle Leg	muscle
22	chr1:160806600-160810800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:160806800-160808200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:160806800-160808200	Enhancers	Brain Hippocampus Middle	brain
25	chr1:160806800-160809800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:160807000-160808200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr1:160807200-160808400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:160807200-160809000	Flanking Active TSS	Thymus	Thymus
29	chr1:160807200-160811000	Weak transcription	Fetal Intestine Large	intestine
30	chr1:160807400-160808000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr1:160807400-160808000	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:160807400-160808000	Flanking Active TSS	GM12878-XiMat	blood
33	chr1:160807400-160808200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:160807400-160808200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:160807400-160808200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr1:160807400-160808200	Enhancers	Brain Anterior Caudate	brain
37	chr1:160807400-160808600	Enhancers	Brain Substantia Nigra	brain
38	chr1:160807400-160808800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr1:160807400-160809000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:160807600-160808000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:160807600-160808000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
42	chr1:160807600-160808000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr1:160807600-160808000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:160807600-160808000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:160807600-160808000	Enhancers	Colonic Mucosa	Colon
46	chr1:160807600-160808000	Enhancers	Rectal Smooth Muscle	rectum
47	chr1:160807600-160808200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr1:160807600-160808600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr1:160807600-160808800	Genic enhancers	Primary monocytes fromperipheralblood	blood
50	chr1:160807600-160808800	Flanking Active TSS	Primary T cells from cord blood	blood

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