Variant report

Variant	rs61479600
Chromosome Location	chr1:224687152-224687153
allele	A/G
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: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13376231	1.00[EUR][1000 genomes]
rs55787629	1.00[EUR][1000 genomes]
rs57898225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59066189	1.00[EUR][1000 genomes]
rs60544953	1.00[EUR][1000 genomes]
rs60976873	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61004241	1.00[EUR][1000 genomes]
rs61155218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6676481	1.00[EUR][1000 genomes]
rs6683232	1.00[EUR][1000 genomes]
rs74146364	1.00[EUR][1000 genomes]
rs74146365	1.00[EUR][1000 genomes]
rs74146366	1.00[EUR][1000 genomes]
rs74146367	1.00[EUR][1000 genomes]
rs74146368	1.00[EUR][1000 genomes]
rs7522430	1.00[EUR][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:116 , 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	chr1:224685200-224687200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:224685200-224687200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:224685200-224687400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:224685200-224687400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:224685200-224687400	Enhancers	Primary hematopoietic stem cells	blood
9	chr1:224685200-224687400	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:224685200-224687400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr1:224685200-224687800	Enhancers	Brain Anterior Caudate	brain
12	chr1:224685200-224688600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:224685200-224695800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr1:224685400-224687200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:224685400-224687200	Enhancers	Fetal Kidney	kidney
16	chr1:224685400-224687200	Enhancers	Placenta	Placenta
17	chr1:224685400-224687200	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:224685400-224687200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:224685400-224687200	Flanking Active TSS	Osteobl	bone
20	chr1:224685400-224687400	Enhancers	HSMMtube	muscle
21	chr1:224685600-224687200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:224685600-224687200	Enhancers	Brain Angular Gyrus	brain
23	chr1:224685600-224687200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:224685600-224687200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr1:224685600-224687200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr1:224685600-224687400	Enhancers	Brain Substantia Nigra	brain
27	chr1:224685600-224689600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr1:224685800-224687200	Enhancers	Brain Cingulate Gyrus	brain
29	chr1:224685800-224687200	Enhancers	Fetal Intestine Small	intestine
30	chr1:224685800-224687200	Enhancers	Small Intestine	intestine
31	chr1:224685800-224687400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:224686000-224687400	Enhancers	K562	blood
33	chr1:224686000-224689600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:224686000-224690000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr1:224686200-224687200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr1:224686200-224687200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:224686200-224687200	Flanking Active TSS	HMEC	breast
38	chr1:224686200-224687200	Flanking Active TSS	NHDF-Ad	bronchial
39	chr1:224686200-224689000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr1:224686400-224687200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr1:224686400-224687200	Enhancers	Fetal Intestine Large	intestine
42	chr1:224686400-224687200	Flanking Active TSS	NHEK	skin
43	chr1:224686400-224689600	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:224686600-224687200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:224686600-224687200	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr1:224686600-224687200	Enhancers	Adipose Nuclei	Adipose
47	chr1:224686600-224687400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:224686600-224687400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:224686600-224687400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:224686600-224687400	Enhancers	GM12878-XiMat	blood

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