Variant report

Variant	rs622859
Chromosome Location	chr6:4133547-4133548
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr6:4133540-4133794	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:4056059..4057941-chr6:4133460..4135296,2	K562	blood:
2	chr6:4130992..4133785-chr6:4183388..4185664,2	K562	blood:
3	chr6:4016355..4024618-chr6:4131840..4138381,21	K562	blood:
4	chr6:4017302..4025509-chr6:4131840..4138381,19	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C6orf201-5	chr6:4131253-4134818	NONHSAT107321

No data

Variant related genes	Relation type
ENSG00000234817	TF binding region
ENSG00000254821	TF binding region
ENSG00000112739	Chromatin interaction
ENSG00000272248	Chromatin interaction
ENSG00000230648	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10085196	0.89[EUR][1000 genomes]
rs1204950	0.93[ASN][1000 genomes]
rs13205642	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13206444	0.91[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs13210282	0.89[EUR][1000 genomes]
rs2326407	0.95[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34094324	0.90[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs34200917	0.89[EUR][1000 genomes]
rs605301	1.00[ASN][1000 genomes]
rs608917	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611677	0.95[ASN][1000 genomes]
rs625577	1.00[ASN][1000 genomes]
rs627902	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629533	1.00[ASN][1000 genomes]
rs633677	1.00[ASN][1000 genomes]
rs656694	1.00[ASN][1000 genomes]
rs6597030	0.89[EUR][1000 genomes]
rs715165	0.81[EUR][1000 genomes]
rs71553906	0.89[EUR][1000 genomes]
rs7742642	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs853412	0.98[ASN][1000 genomes]
rs853421	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs853422	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9328222	0.89[EUR][1000 genomes]
rs945251	0.93[ASN][1000 genomes]
rs9689605	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv2422231	chr6:4100333-4233454	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	23 gene(s)	inside rSNPs	diseases
6	esv2422457	chr6:4100333-4377396	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4111000-4134200	Weak transcription	Stomach Mucosa	stomach
2	chr6:4113800-4134600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:4114600-4133600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr6:4115200-4133800	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:4115400-4133800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr6:4122400-4133800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr6:4127000-4133600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr6:4127000-4134200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:4127000-4134200	Weak transcription	Aorta	Aorta
10	chr6:4127200-4134200	Weak transcription	HMEC	breast
11	chr6:4127400-4133800	Strong transcription	Colon Smooth Muscle	Colon
12	chr6:4127800-4133800	Strong transcription	A549	lung
13	chr6:4128000-4133800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:4129400-4134400	Weak transcription	Lung	lung
15	chr6:4130200-4133600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:4130400-4133800	Genic enhancers	HepG2	liver
17	chr6:4130600-4133800	Weak transcription	Fetal Heart	heart
18	chr6:4130800-4133800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr6:4131000-4133600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr6:4131000-4133800	Weak transcription	Fetal Brain Female	brain
21	chr6:4131000-4134200	Weak transcription	HSMMtube	muscle
22	chr6:4131200-4133600	Weak transcription	Fetal Brain Male	brain
23	chr6:4131200-4133800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr6:4131200-4133800	Weak transcription	Brain Angular Gyrus	brain
25	chr6:4131200-4133800	Weak transcription	Brain Substantia Nigra	brain
26	chr6:4131200-4134000	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr6:4131200-4134000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr6:4131200-4134200	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr6:4131200-4134200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:4131200-4134200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:4131200-4134400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr6:4131400-4133800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:4132200-4133600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr6:4132200-4133600	Strong transcription	Brain Anterior Caudate	brain
35	chr6:4132200-4133600	Strong transcription	NHDF-Ad	bronchial
36	chr6:4132400-4133600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:4132400-4134000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr6:4132400-4134200	Weak transcription	Colonic Mucosa	Colon
39	chr6:4132600-4133600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:4132600-4133600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr6:4132600-4133600	Weak transcription	Hela-S3	cervix
42	chr6:4132600-4133800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:4132600-4134000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr6:4132600-4134000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr6:4132600-4134000	Weak transcription	Fetal Lung	lung
46	chr6:4132600-4134200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr6:4132600-4134200	Weak transcription	Gastric	stomach
48	chr6:4132600-4134200	Weak transcription	Psoas Muscle	Psoas
49	chr6:4132600-4134200	Weak transcription	Small Intestine	intestine
50	chr6:4132600-4134200	Weak transcription	HSMM	muscle

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