Variant report

Variant	rs56081029
Chromosome Location	chr1:224686582-224686583
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	chr1:224674487..224677087-chr1:224685810..224687371,2	K562	blood:
2	chr1:224683423..224687942-chr1:224688283..224691740,8	K562	blood:

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs13374584	1.00[AMR][1000 genomes]
rs1499284	1.00[AMR][1000 genomes]
rs16849419	1.00[AMR][1000 genomes]
rs16849547	1.00[AMR][1000 genomes]
rs6426149	1.00[AMR][1000 genomes]
rs6679959	1.00[AMR][1000 genomes]
rs6690547	1.00[AMR][1000 genomes]
rs74146377	1.00[AMR][1000 genomes]
rs74146381	1.00[AMR][1000 genomes]
rs74146382	1.00[AMR][1000 genomes]
rs74146383	1.00[AMR][1000 genomes]
rs74146386	1.00[AMR][1000 genomes]
rs7554221	1.00[AMR][1000 genomes]
rs9661938	1.00[AMR][1000 genomes]
rs9729870	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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224679800-224689600	Weak transcription	Pancreas	Pancrea
2	chr1:224682800-224690200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:224684600-224687200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:224684800-224686800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr1:224685200-224686600	Enhancers	Primary B cells from peripheral blood	blood
6	chr1:224685200-224686600	Enhancers	Primary T helper naive cells from peripheral blood	blood
7	chr1:224685200-224686600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr1:224685200-224686600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:224685200-224686600	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr1:224685200-224686800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:224685200-224686800	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr1:224685200-224686800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr1:224685200-224686800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:224685200-224687200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:224685200-224687200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:224685200-224687400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:224685200-224687400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:224685200-224687400	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:224685200-224687400	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr1:224685200-224687400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:224685200-224687800	Enhancers	Brain Anterior Caudate	brain
22	chr1:224685200-224688600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:224685200-224695800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:224685400-224686600	Enhancers	Primary T cells from cord blood	blood
25	chr1:224685400-224686600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:224685400-224686600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:224685400-224686600	Enhancers	Duodenum Mucosa	Duodenum
28	chr1:224685400-224686600	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr1:224685400-224686600	Enhancers	Esophagus	oesophagus
30	chr1:224685400-224686600	Enhancers	Fetal Lung	lung
31	chr1:224685400-224686800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr1:224685400-224686800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr1:224685400-224686800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:224685400-224686800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr1:224685400-224686800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr1:224685400-224686800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:224685400-224686800	Enhancers	Fetal Muscle Leg	muscle
38	chr1:224685400-224686800	Enhancers	Fetal Thymus	thymus
39	chr1:224685400-224686800	Enhancers	Lung	lung
40	chr1:224685400-224686800	Enhancers	Ovary	ovary
41	chr1:224685400-224686800	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr1:224685400-224686800	Enhancers	Right Atrium	heart
43	chr1:224685400-224686800	Enhancers	Right Ventricle	heart
44	chr1:224685400-224686800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:224685400-224686800	Flanking Active TSS	HUVEC	blood vessel
46	chr1:224685400-224687000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:224685400-224687200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:224685400-224687200	Enhancers	Fetal Kidney	kidney
49	chr1:224685400-224687200	Enhancers	Placenta	Placenta
50	chr1:224685400-224687200	Enhancers	Sigmoid Colon	Sigmoid Colon

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