Variant report

Variant	rs6597023
Chromosome Location	chr6:3996978-3996979
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:3991492..3994091-chr6:3995382..3997946,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1543355	1.00[JPT][hapmap]
rs1886334	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2181894	1.00[JPT][hapmap]
rs2745451	1.00[JPT][hapmap]
rs3747762	1.00[JPT][hapmap]
rs3761787	1.00[JPT][hapmap]
rs4959915	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6421941	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6597024	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6906467	1.00[JPT][hapmap]
rs6918566	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6924389	0.83[CHD][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs6939049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs697745	1.00[JPT][hapmap]
rs707980	1.00[JPT][hapmap]
rs707981	1.00[JPT][hapmap]
rs707982	1.00[JPT][hapmap]
rs707983	1.00[JPT][hapmap]
rs707985	1.00[JPT][hapmap]
rs7763721	0.94[ASN][1000 genomes]
rs853396	1.00[JPT][hapmap]
rs853397	1.00[JPT][hapmap]
rs853398	0.80[CHD][hapmap];1.00[JPT][hapmap]
rs853400	1.00[JPT][hapmap]
rs853401	0.87[YRI][hapmap]
rs853403	1.00[JPT][hapmap]
rs853405	1.00[JPT][hapmap]
rs853406	1.00[JPT][hapmap]
rs853407	0.92[JPT][hapmap]
rs853408	1.00[JPT][hapmap]
rs853411	1.00[JPT][hapmap]
rs9328213	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9328215	1.00[JPT][hapmap]
rs9328216	1.00[JPT][hapmap]
rs9378394	0.88[ASN][1000 genomes]
rs9405690	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9503893	1.00[JPT][hapmap]

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	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv1800199	chr6:3986611-4014872	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:3979000-4003200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr6:3980600-4003600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:3985400-4011000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:3987800-3997200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:3987800-3998800	Weak transcription	Primary T cells from cord blood	blood
6	chr6:3988200-3997000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:3991200-4003800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr6:3991200-4008400	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:3991200-4010400	Weak transcription	K562	blood
10	chr6:3991200-4011000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:3991200-4012200	Weak transcription	Left Ventricle	heart
12	chr6:3991400-3997000	Weak transcription	Psoas Muscle	Psoas
13	chr6:3991400-3997400	Weak transcription	Brain Anterior Caudate	brain
14	chr6:3991400-4003600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr6:3991400-4011000	Weak transcription	Lung	lung
16	chr6:3991400-4016800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:3991600-3997000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:3991600-3997000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:3991600-3997000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:3991600-3997200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:3991600-4000200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr6:3991600-4001800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:3991600-4003000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr6:3991600-4003600	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:3991600-4007000	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr6:3991600-4008000	Weak transcription	Liver	Liver
27	chr6:3991600-4008400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr6:3991600-4008400	Weak transcription	Fetal Kidney	kidney
29	chr6:3991600-4008400	Weak transcription	HSMM	muscle
30	chr6:3991600-4017200	Weak transcription	Fetal Brain Female	brain
31	chr6:3991600-4017400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr6:3991600-4017600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:3991800-3997000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr6:3991800-3997000	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:3991800-3997200	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:3991800-3997200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:3991800-3997200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:3991800-3997200	Weak transcription	Fetal Lung	lung
39	chr6:3991800-3997200	Weak transcription	NHLF	lung
40	chr6:3991800-3997400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr6:3991800-3997600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr6:3991800-4008000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:3991800-4016600	Weak transcription	Aorta	Aorta
44	chr6:3991800-4017400	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:3991800-4017400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr6:3991800-4017600	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:3992000-3997000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr6:3992600-3997200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:3992600-4008400	Weak transcription	Fetal Intestine Small	intestine
50	chr6:3993200-3997800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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