Variant report

Variant	rs2233433
Chromosome Location	chr6:44232977-44232978
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:44231911..44234847-chr6:44237510..44240187,2	MCF-7	breast:
2	chr6:44093102..44095527-chr6:44231141..44233414,2	MCF-7	breast:
3	chr11:14379842..14380660-chr6:44232804..44233558,2	Hela-S3	cervix:
4	chr6:44119509..44120094-chr6:44232568..44233208,2	MCF-7	breast:
5	chr6:44140242..44141027-chr6:44232434..44233228,2	MCF-7	breast:
6	chr6:44092343..44095710-chr6:44231665..44234902,4	K562	blood:
7	chr6:44231291..44234957-chr6:44353668..44356659,3	K562	blood:
8	chr6:44100637..44102842-chr6:44230503..44233422,2	MCF-7	breast:
9	chr6:44231156..44234544-chr6:44279395..44281173,3	MCF-7	breast:
10	chr6:44231603..44235224-chr6:44277267..44282023,5	MCF-7	breast:
11	chr6:44231713..44233466-chr6:44264708..44267385,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180992	Chromatin interaction
ENSG00000146221	Chromatin interaction
ENSG00000178233	Chromatin interaction
ENSG00000096401	Chromatin interaction
ENSG00000137216	Chromatin interaction
ENSG00000133818	Chromatin interaction
ENSG00000124608	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1044690	0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs2233424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2233434	0.90[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2236500	0.94[EUR][1000 genomes]
rs28362854	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28362855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28362856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28362859	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34984888	1.00[LWK][hapmap]
rs35623954	0.88[EUR][1000 genomes]
rs3734708	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3734709	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3799963	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41282670	0.88[EUR][1000 genomes]
rs495294	1.00[LWK][hapmap]
rs60453984	0.85[EUR][1000 genomes]
rs61742784	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6458377	0.85[EUR][1000 genomes]
rs9381320	1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv885851	chr6:44178471-44240559	Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv603003	chr6:44191920-44253765	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
4	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
5	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
6	nsv885853	chr6:44197181-44274797	Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
7	nsv524398	chr6:44200953-44253765	Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
8	nsv885854	chr6:44211867-44274797	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
9	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
10	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
11	nsv885857	chr6:44223010-44250165	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44230000-44233200	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr6:44230200-44233400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr6:44230400-44233000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr6:44230400-44233000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:44230400-44233000	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr6:44230400-44233000	Flanking Active TSS	Placenta	Placenta
7	chr6:44230400-44233200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr6:44230600-44233000	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr6:44230600-44233000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:44230600-44233000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr6:44230600-44233000	Flanking Active TSS	Liver	Liver
12	chr6:44230600-44233000	Flanking Active TSS	Colonic Mucosa	Colon
13	chr6:44230600-44233000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
14	chr6:44230600-44233000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr6:44230800-44233000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr6:44230800-44233000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr6:44230800-44233600	Active TSS	GM12878-XiMat	blood
18	chr6:44231200-44233000	Flanking Active TSS	Brain Germinal Matrix	brain
19	chr6:44231200-44233000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr6:44231200-44233400	Active TSS	H9 Cell Line	embryonic stem cell
21	chr6:44231400-44233000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:44231400-44233000	Flanking Active TSS	Brain Anterior Caudate	brain
23	chr6:44231400-44233000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
24	chr6:44231400-44233000	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr6:44231400-44233000	Flanking Active TSS	Right Ventricle	heart
26	chr6:44231400-44233000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr6:44231400-44233800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr6:44231600-44233000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr6:44231600-44233000	Flanking Active TSS	Osteobl	bone
30	chr6:44231600-44233400	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr6:44231800-44233000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr6:44231800-44233000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:44231800-44233000	Flanking Active TSS	Fetal Brain Male	brain
34	chr6:44231800-44233800	Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr6:44232000-44233000	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr6:44232200-44233200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr6:44232200-44233400	Active TSS	Lung	lung
38	chr6:44232200-44233400	Active TSS	A549	lung
39	chr6:44232200-44233400	Active TSS	NHDF-Ad	bronchial
40	chr6:44232400-44233200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr6:44232400-44233400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr6:44232400-44233400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:44232400-44233400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:44232400-44233400	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr6:44232400-44233400	Active TSS	Gastric	stomach
46	chr6:44232400-44233400	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr6:44232400-44233400	Active TSS	Spleen	Spleen
48	chr6:44232400-44233600	Bivalent/Poised TSS	HepG2	liver
49	chr6:44232600-44233000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr6:44232600-44233200	Active TSS	Stomach Mucosa	stomach

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