Variant report

Variant	rs1810345
Chromosome Location	chr1:224317877-224317878
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	chr1:224316722..224318246-chr1:224322433..224324079,2	K562	blood:
2	chr1:224316899..224321028-chr1:224322259..224326330,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10732277	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10799475	1.00[AMR][1000 genomes]
rs11804144	1.00[AMR][1000 genomes]
rs1492693	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2131307	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4653562	1.00[AMR][1000 genomes]
rs6426120	1.00[AMR][1000 genomes]
rs6426140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6426161	1.00[AMR][1000 genomes]
rs6665085	1.00[AMR][1000 genomes]
rs6673438	1.00[AMR][1000 genomes]
rs6684699	1.00[AMR][1000 genomes]
rs7531870	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534791	0.83[AFR][1000 genomes]
rs908792	1.00[AMR][1000 genomes]
rs908794	1.00[AMR][1000 genomes]
rs969007	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv427941	chr1:224085052-224363163	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv832692	chr1:224206536-224407717	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv873222	chr1:224292898-224335422	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224302800-224318200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:224302800-224318200	Weak transcription	Left Ventricle	heart
3	chr1:224302800-224318200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:224302800-224318400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:224302800-224319600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:224302800-224319600	Weak transcription	Esophagus	oesophagus
7	chr1:224302800-224319600	Weak transcription	Lung	lung
8	chr1:224302800-224319600	Weak transcription	Small Intestine	intestine
9	chr1:224302800-224320200	Weak transcription	Pancreas	Pancrea
10	chr1:224302800-224327200	Weak transcription	Aorta	Aorta
11	chr1:224303000-224318000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:224303000-224318200	Weak transcription	Colonic Mucosa	Colon
13	chr1:224303000-224329000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:224303000-224363400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:224303200-224318000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:224303200-224318000	Weak transcription	HSMMtube	muscle
17	chr1:224303600-224318000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr1:224304000-224319600	Weak transcription	Fetal Stomach	stomach
19	chr1:224304200-224318200	Weak transcription	Fetal Heart	heart
20	chr1:224304400-224318200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:224304400-224318200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:224304400-224318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr1:224304400-224318200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:224304400-224318200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr1:224304400-224320000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr1:224304600-224318000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:224304600-224318000	Weak transcription	Brain Angular Gyrus	brain
28	chr1:224304600-224318000	Weak transcription	Brain Germinal Matrix	brain
29	chr1:224304600-224318000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:224304600-224318000	Weak transcription	Fetal Lung	lung
31	chr1:224304600-224318200	Weak transcription	Adipose Nuclei	Adipose
32	chr1:224304600-224318800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:224304800-224318400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:224307400-224318200	Weak transcription	HSMM	muscle
35	chr1:224307600-224318000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr1:224307600-224318000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr1:224307600-224318000	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:224307800-224318000	Weak transcription	Fetal Thymus	thymus
39	chr1:224308000-224318000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:224308000-224318200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:224308200-224318200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:224308200-224318200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr1:224308200-224318400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:224308400-224318000	Weak transcription	Primary T cells from cord blood	blood
45	chr1:224309600-224318200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:224310400-224318000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:224310400-224318200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr1:224310600-224318000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr1:224310600-224318000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:224310600-224318000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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