Variant report

Variant	rs56859250
Chromosome Location	chr1:197126848-197126849
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	chr1:197126302..197127851-chr1:197131460..197133305,2	K562	blood:
2	chr1:197121011..197127851-chr1:197128597..197135190,9	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs17514507	1.00[AMR][1000 genomes]
rs17514528	1.00[AMR][1000 genomes]
rs17514535	1.00[AMR][1000 genomes]
rs17514669	1.00[AMR][1000 genomes]
rs17514676	1.00[AMR][1000 genomes]
rs17514760	1.00[AMR][1000 genomes]
rs17514851	1.00[AMR][1000 genomes]
rs17549561	1.00[AMR][1000 genomes]
rs17549589	1.00[AMR][1000 genomes]
rs17549664	1.00[AMR][1000 genomes]
rs17549866	1.00[AMR][1000 genomes]
rs35203521	1.00[AMR][1000 genomes]
rs58937239	0.91[AFR][1000 genomes]
rs59310838	0.91[AFR][1000 genomes]
rs60000414	0.91[AFR][1000 genomes]
rs62623455	1.00[AMR][1000 genomes]
rs62624965	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv873070	chr1:197079671-197165014	Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv873071	chr1:197079671-197187605	Active TSS Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv873072	chr1:197079671-197221248	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv548871	chr1:197106604-197168233	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv873073	chr1:197107074-197221248	Flanking Active TSS Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:197116400-197127000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:197116400-197127400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:197116400-197127400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:197116400-197127400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:197116400-197127600	Weak transcription	Brain Germinal Matrix	brain
6	chr1:197116400-197127600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:197116400-197127600	Weak transcription	HSMM	muscle
8	chr1:197116400-197127800	Weak transcription	Fetal Lung	lung
9	chr1:197116400-197127800	Weak transcription	NH-A	brain
10	chr1:197116400-197128000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr1:197116400-197128200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr1:197116400-197128200	Weak transcription	Brain Angular Gyrus	brain
13	chr1:197116400-197128400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:197116400-197128400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:197116400-197128400	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr1:197116400-197128400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:197116400-197128400	Weak transcription	Brain Anterior Caudate	brain
18	chr1:197116400-197128400	Weak transcription	Fetal Thymus	thymus
19	chr1:197116400-197128400	Weak transcription	A549	lung
20	chr1:197116400-197128600	Weak transcription	Left Ventricle	heart
21	chr1:197116400-197132000	Weak transcription	HSMMtube	muscle
22	chr1:197116400-197134800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:197116400-197138800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr1:197116400-197142200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr1:197116400-197142200	Weak transcription	HUVEC	blood vessel
26	chr1:197116400-197142400	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:197116400-197142400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:197116400-197142600	Weak transcription	Fetal Brain Female	brain
29	chr1:197116400-197146200	Weak transcription	Gastric	stomach
30	chr1:197116400-197155000	Weak transcription	Fetal Brain Male	brain
31	chr1:197116600-197127400	Weak transcription	Primary B cells from cord blood	blood
32	chr1:197116600-197127400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:197116600-197127600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr1:197116600-197127800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:197116600-197128000	Weak transcription	Placenta	Placenta
36	chr1:197116600-197128200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:197116600-197128400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:197116600-197128400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr1:197116600-197128400	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:197116600-197128400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:197116600-197128400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr1:197116600-197128400	Weak transcription	Adipose Nuclei	Adipose
43	chr1:197116600-197128400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr1:197116600-197135800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:197116600-197142600	Weak transcription	HMEC	breast
46	chr1:197116600-197169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:197116800-197128000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:197116800-197128200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:197116800-197128400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:197116800-197128400	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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