Variant report

Variant	rs41301029
Chromosome Location	chr1:213069523-213069524
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	chr1:213067051..213070397-chr1:213070483..213072909,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs2047288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2047291	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2088256	1.00[AFR][1000 genomes]
rs3768549	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41258005	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41296666	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41296668	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41296674	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41296676	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41296678	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41296680	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41297452	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41300027	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41300033	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41300035	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41300043	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41300979	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41307644	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41307646	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs41314542	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58746017	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011186	chr1:213005165-213069563	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv998979	chr1:213029814-213073013	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv1007129	chr1:213037244-213083261	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213032600-213073000	Weak transcription	Colonic Mucosa	Colon
2	chr1:213032600-213073000	Weak transcription	Esophagus	oesophagus
3	chr1:213034600-213070600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:213035800-213073000	Weak transcription	Small Intestine	intestine
5	chr1:213036000-213070800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:213037600-213073200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:213038400-213072000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:213039600-213073000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:213040400-213073000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:213043200-213073400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:213045000-213070800	Weak transcription	Pancreas	Pancrea
12	chr1:213047000-213073600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:213049000-213073000	Weak transcription	HSMMtube	muscle
14	chr1:213049800-213072400	Weak transcription	Fetal Brain Male	brain
15	chr1:213049800-213073200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:213049800-213073200	Weak transcription	Spleen	Spleen
17	chr1:213052200-213073000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:213052800-213073400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr1:213053400-213073800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:213053600-213073000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:213053800-213073200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:213053800-213073200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:213054000-213071000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
24	chr1:213054200-213071400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:213054400-213073200	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:213055000-213073600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:213055200-213073200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr1:213056000-213071200	Strong transcription	Primary B cells from peripheral blood	blood
29	chr1:213056000-213072200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr1:213056200-213072000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:213056200-213074200	Strong transcription	Duodenum Mucosa	Duodenum
32	chr1:213056400-213070000	Strong transcription	K562	blood
33	chr1:213056400-213073400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:213056600-213073600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:213056800-213073000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:213057000-213072200	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:213057000-213073400	Strong transcription	Fetal Intestine Large	intestine
38	chr1:213057600-213075000	Weak transcription	Right Ventricle	heart
39	chr1:213058000-213073400	Strong transcription	A549	lung
40	chr1:213058600-213073000	Weak transcription	Brain Germinal Matrix	brain
41	chr1:213059400-213073600	Strong transcription	Primary T cells from cord blood	blood
42	chr1:213060400-213072800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:213061800-213071600	Strong transcription	Left Ventricle	heart
44	chr1:213062400-213070600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:213062400-213073400	Weak transcription	Psoas Muscle	Psoas
46	chr1:213062600-213070600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:213062600-213075000	Weak transcription	Thymus	Thymus
48	chr1:213062800-213069600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:213063200-213070000	Weak transcription	Fetal Intestine Small	intestine
50	chr1:213063400-213072000	Weak transcription	Brain Angular Gyrus	brain

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