Variant report

Variant	rs3130032
Chromosome Location	chr6:33426849-33426850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:33284995..33286876-chr6:33425293..33427884,2	K562	blood:
2	chr6:33420716..33423684-chr6:33426198..33429030,3	MCF-7	breast:
3	chr6:33420865..33423368-chr6:33425869..33429476,4	MCF-7	breast:
4	chr6:33425270..33426950-chr6:33428718..33430571,2	MCF-7	breast:
5	chr6:33425473..33427450-chr6:33429815..33431643,2	K562	blood:
6	chr6:33424166..33426973-chr6:33429815..33431845,2	K562	blood:
7	chr6:33421135..33425238-chr6:33425699..33429689,6	K562	blood:

Variant related genes	Relation type
ENSG00000213588	Chromatin interaction
ENSG00000236104	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12529825	1.00[CHB][hapmap]
rs1755040	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs210131	0.91[EUR][1000 genomes]
rs210153	0.88[EUR][1000 genomes]
rs210190	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2747476	1.00[ASN][1000 genomes]
rs28800551	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3119019	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3119021	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3119022	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3119024	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3119025	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3119026	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3119027	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3130023	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3130024	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3130026	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3130035	0.95[EUR][1000 genomes]
rs34416888	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs35432298	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35700288	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35796955	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35817932	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs36003672	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs406009	1.00[ASN][1000 genomes]
rs413722	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs421328	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs449978	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4713634	0.91[EUR][1000 genomes]
rs498066	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910721	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[TSI][hapmap]
rs761582	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762843	0.91[CEU][hapmap];1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830637	chr6:33329365-33510704	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv602832	chr6:33382241-33520221	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33423200-33429000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr6:33423400-33427200	Weak transcription	NHDF-Ad	bronchial
3	chr6:33423400-33430800	Weak transcription	Gastric	stomach
4	chr6:33423600-33429000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:33423800-33427400	Strong transcription	Fetal Brain Female	brain
6	chr6:33423800-33429200	Weak transcription	Fetal Brain Male	brain
7	chr6:33424200-33427000	Weak transcription	Aorta	Aorta
8	chr6:33424200-33427600	Weak transcription	Fetal Intestine Large	intestine
9	chr6:33424200-33431200	Weak transcription	HepG2	liver
10	chr6:33424200-33439200	Weak transcription	Pancreas	Pancrea
11	chr6:33424400-33427000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:33424400-33427600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr6:33424400-33427600	Weak transcription	Ovary	ovary
14	chr6:33424400-33428000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr6:33424600-33427000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr6:33424600-33427000	Weak transcription	Thymus	Thymus
17	chr6:33424600-33427200	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr6:33424600-33433800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:33424600-33434400	Weak transcription	Fetal Intestine Small	intestine
20	chr6:33425000-33427200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr6:33425200-33427000	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr6:33425200-33427000	Weak transcription	Adipose Nuclei	Adipose
23	chr6:33425200-33427000	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:33425200-33427000	Weak transcription	Fetal Thymus	thymus
25	chr6:33425200-33427000	Weak transcription	Osteobl	bone
26	chr6:33425200-33427200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:33425200-33427400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:33425200-33427600	Weak transcription	NH-A	brain
29	chr6:33425200-33427800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:33425200-33428000	Weak transcription	Dnd41	blood
31	chr6:33425200-33428200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:33425200-33428200	Weak transcription	HSMMtube	muscle
33	chr6:33425200-33428400	Weak transcription	HSMM	muscle
34	chr6:33425200-33429400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr6:33425200-33429800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:33425400-33427000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr6:33425400-33427000	Weak transcription	Brain Substantia Nigra	brain
38	chr6:33425400-33427000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr6:33425400-33427200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:33425400-33427200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:33425400-33427200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr6:33425400-33427200	Weak transcription	Stomach Smooth Muscle	stomach
43	chr6:33425400-33427400	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr6:33425400-33427800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr6:33425400-33428000	Weak transcription	Lung	lung
46	chr6:33425400-33428200	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:33425400-33428400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:33425400-33429600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:33425600-33427000	Weak transcription	Fetal Stomach	stomach
50	chr6:33425600-33427200	Weak transcription	Primary B cells from cord blood	blood

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