Variant report

Variant	rs9404051
Chromosome Location	chr6:101245020-101245021
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:101243854..101246024-chr6:101258576..101260117,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12183204	0.91[ASN][1000 genomes]
rs1336240	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1336247	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1336248	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1336249	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1472299	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1577618	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1889888	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2172843	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2295604	0.91[ASN][1000 genomes]
rs3736784	0.91[ASN][1000 genomes]
rs3736785	0.91[ASN][1000 genomes]
rs41285887	0.82[ASN][1000 genomes]
rs41285889	0.91[ASN][1000 genomes]
rs41288407	0.91[ASN][1000 genomes]
rs41288409	0.91[ASN][1000 genomes]
rs41288411	0.91[ASN][1000 genomes]
rs4839788	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4840143	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4840145	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4840146	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4840149	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4840152	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs61746540	0.82[ASN][1000 genomes]
rs62422696	0.91[ASN][1000 genomes]
rs6899507	0.91[ASN][1000 genomes]
rs6902414	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6903429	0.82[ASN][1000 genomes]
rs6908453	0.91[ASN][1000 genomes]
rs6923187	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6925086	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6927531	0.82[ASN][1000 genomes]
rs6928584	0.83[ASN][1000 genomes]
rs6932921	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6939613	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7741877	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7751872	0.91[ASN][1000 genomes]
rs7756019	0.91[ASN][1000 genomes]
rs7757823	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7764514	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7765469	0.91[ASN][1000 genomes]
rs7767971	0.91[ASN][1000 genomes]
rs7770430	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7773317	0.91[ASN][1000 genomes]
rs9322169	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9373587	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9377215	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9390683	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9399681	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9399691	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9404014	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9485419	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9498396	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949535	chr6:100740293-101469052	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers 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	16 gene(s)	inside rSNPs	diseases
2	nsv886456	chr6:101049108-101277926	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1020692	chr6:101136992-101426071	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv604275	chr6:101158950-101277926	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv886457	chr6:101158950-101487473	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1016353	chr6:101172705-101304041	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv1020400	chr6:101172705-101981665	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv538390	chr6:101172705-101981665	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv1019213	chr6:101225650-101623140	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv538391	chr6:101225650-101623140	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:101184400-101304600	Weak transcription	Hela-S3	cervix
2	chr6:101191400-101277000	Weak transcription	Esophagus	oesophagus
3	chr6:101212000-101246400	Weak transcription	Psoas Muscle	Psoas
4	chr6:101212000-101276200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:101212000-101281400	Weak transcription	Aorta	Aorta
6	chr6:101213600-101256000	Weak transcription	Ovary	ovary
7	chr6:101213600-101281600	Weak transcription	Gastric	stomach
8	chr6:101213800-101250800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr6:101213800-101254200	Weak transcription	Fetal Thymus	thymus
10	chr6:101214800-101281600	Weak transcription	Left Ventricle	heart
11	chr6:101215200-101247000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:101215200-101252600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr6:101215200-101256200	Weak transcription	Osteobl	bone
14	chr6:101215200-101263000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:101215200-101311400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:101215400-101258600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr6:101223000-101256800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:101226000-101281400	Weak transcription	HUVEC	blood vessel
19	chr6:101232000-101255200	Weak transcription	NHLF	lung
20	chr6:101233600-101306600	Weak transcription	K562	blood
21	chr6:101233800-101265200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:101234400-101254400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:101234600-101260000	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:101235200-101246000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr6:101235800-101246000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr6:101236200-101245800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr6:101236800-101257800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:101237000-101257400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr6:101238000-101251000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:101238000-101296200	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:101238800-101257200	Weak transcription	HepG2	liver
32	chr6:101239400-101254600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr6:101239800-101257800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr6:101240200-101257800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:101240400-101266000	Weak transcription	Pancreas	Pancrea
36	chr6:101240600-101277000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr6:101240800-101245600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr6:101241400-101250600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:101241600-101276200	Weak transcription	Fetal Intestine Large	intestine
40	chr6:101241800-101253400	Strong transcription	Dnd41	blood
41	chr6:101241800-101276200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:101242600-101248400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr6:101242600-101252800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr6:101242600-101254600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr6:101242600-101262600	Weak transcription	Small Intestine	intestine
46	chr6:101242800-101246800	Weak transcription	Brain Angular Gyrus	brain
47	chr6:101242800-101256800	Weak transcription	Colon Smooth Muscle	Colon
48	chr6:101243000-101247000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:101243000-101252200	Weak transcription	Fetal Muscle Leg	muscle
50	chr6:101243200-101245600	Weak transcription	Rectal Smooth Muscle	rectum

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