Variant report

Variant	rs6681412
Chromosome Location	chr1:10361184-10361185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs35922640	1.00[AMR][1000 genomes]
rs59661672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60490329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61775871	1.00[AMR][1000 genomes]
rs61775875	1.00[AMR][1000 genomes]
rs61775876	1.00[AMR][1000 genomes]
rs61775877	1.00[AMR][1000 genomes]
rs61775888	1.00[AMR][1000 genomes]
rs61775891	1.00[AMR][1000 genomes]
rs61775893	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61775919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61775921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61775979	1.00[AMR][1000 genomes]
rs61778374	1.00[AMR][1000 genomes]
rs61778380	1.00[AMR][1000 genomes]
rs61778405	1.00[AMR][1000 genomes]
rs61778417	1.00[AMR][1000 genomes]
rs6541088	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6541093	1.00[AMR][1000 genomes]
rs6661175	0.87[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6669000	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7551816	1.00[AMR][1000 genomes]
rs7553321	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	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv545382	chr1:10309026-10377221	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10314200-10363400	Weak transcription	Fetal Brain Male	brain
3	chr1:10315400-10373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:10316800-10380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:10318400-10367600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr1:10320600-10363000	Weak transcription	Gastric	stomach
7	chr1:10322800-10363200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:10331600-10368000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:10332200-10363800	Weak transcription	Thymus	Thymus
10	chr1:10344000-10363400	Weak transcription	K562	blood
11	chr1:10345600-10361800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:10347400-10363200	Weak transcription	Pancreas	Pancrea
13	chr1:10347400-10365400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:10347800-10366800	Strong transcription	HSMM	muscle
15	chr1:10348200-10367600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:10349800-10369400	Weak transcription	Right Atrium	heart
17	chr1:10350000-10363400	Weak transcription	Spleen	Spleen
18	chr1:10352000-10361400	Strong transcription	HSMMtube	muscle
19	chr1:10352000-10366800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:10352600-10366000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:10352600-10381800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:10352800-10363200	Weak transcription	A549	lung
23	chr1:10353200-10381800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr1:10355000-10366000	Strong transcription	Liver	Liver
25	chr1:10356600-10363200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:10356600-10368000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr1:10356800-10367800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:10356800-10368000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:10357200-10361800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:10357200-10363400	Weak transcription	Fetal Intestine Small	intestine
31	chr1:10357200-10368000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:10357400-10361400	Weak transcription	Fetal Stomach	stomach
33	chr1:10357400-10362800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:10357400-10385600	Weak transcription	Small Intestine	intestine
35	chr1:10357600-10363200	Weak transcription	Colonic Mucosa	Colon
36	chr1:10357600-10363400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:10357600-10363400	Weak transcription	Right Ventricle	heart
38	chr1:10357600-10397000	Weak transcription	Fetal Thymus	thymus
39	chr1:10357800-10363400	Weak transcription	Fetal Kidney	kidney
40	chr1:10357800-10363800	Weak transcription	Fetal Heart	heart
41	chr1:10358000-10361800	Weak transcription	HepG2	liver
42	chr1:10358000-10362400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:10358000-10362600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:10358000-10362600	Weak transcription	Ovary	ovary
45	chr1:10358000-10363200	Weak transcription	Esophagus	oesophagus
46	chr1:10358000-10363200	Weak transcription	Lung	lung
47	chr1:10358000-10363200	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:10358000-10363200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:10358000-10363200	Weak transcription	NHEK	skin
50	chr1:10358000-10363400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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