Variant report

Variant	rs6533180
Chromosome Location	chr4:106074241-106074242
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	chr4:106067555..106069409-chr4:106073849..106075567,2	K562	blood:

Variant related genes	Relation type
ENSG00000168769	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1114718	0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11933960	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12498609	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12506006	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12511800	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12640842	0.95[ASN][1000 genomes]
rs12642165	0.84[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12647779	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12647884	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1391442	0.92[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17583579	1.00[CEU][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17583593	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17616993	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2023841	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2088484	0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2866774	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6533185	1.00[MEX][hapmap];0.88[TSI][hapmap]
rs949681	0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9637601	0.92[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.97[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	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv830025	chr4:105988876-106137946	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:106069400-106083200	Weak transcription	Pancreas	Pancrea
2	chr4:106069400-106087600	Weak transcription	Lung	lung
3	chr4:106069400-106114200	Weak transcription	Esophagus	oesophagus
4	chr4:106069600-106102400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:106069800-106075600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:106069800-106075800	Weak transcription	Aorta	Aorta
7	chr4:106069800-106080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:106069800-106080200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr4:106069800-106101000	Weak transcription	HSMM	muscle
10	chr4:106069800-106101800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr4:106070200-106076000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr4:106070200-106076400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:106070200-106076800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr4:106070200-106080600	Weak transcription	Fetal Stomach	stomach
15	chr4:106070400-106107800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr4:106070400-106111600	Weak transcription	Placenta	Placenta
17	chr4:106070600-106080000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:106071000-106076400	Weak transcription	Primary T cells from cord blood	blood
19	chr4:106071000-106080200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:106071000-106100800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr4:106071200-106074400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:106071200-106075800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr4:106071200-106075800	Weak transcription	HMEC	breast
24	chr4:106071200-106076200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:106071200-106076200	Weak transcription	NHDF-Ad	bronchial
26	chr4:106071200-106077600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr4:106071200-106079400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr4:106071200-106083400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:106071600-106077800	Weak transcription	Fetal Kidney	kidney
30	chr4:106071800-106074800	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:106071800-106075200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr4:106071800-106075200	Weak transcription	NHEK	skin
33	chr4:106071800-106075800	Weak transcription	Right Atrium	heart
34	chr4:106071800-106076400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr4:106071800-106079000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr4:106071800-106080000	Weak transcription	Fetal Intestine Small	intestine
37	chr4:106071800-106082400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr4:106071800-106084400	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:106072000-106074800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:106072000-106075600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:106072000-106075800	Weak transcription	Left Ventricle	heart
42	chr4:106072000-106076400	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:106072000-106076600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr4:106072000-106076600	Weak transcription	Small Intestine	intestine
45	chr4:106072000-106077400	Weak transcription	Brain Germinal Matrix	brain
46	chr4:106072000-106079400	Weak transcription	Primary B cells from cord blood	blood
47	chr4:106072000-106080200	Weak transcription	Fetal Intestine Large	intestine
48	chr4:106072000-106082600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr4:106072000-106083200	Weak transcription	Brain Substantia Nigra	brain
50	chr4:106072000-106083200	Weak transcription	Fetal Brain Female	brain

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