Variant report

Variant	rs6753686
Chromosome Location	chr2:234196289-234196290
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234184025..234186339-chr2:234195161..234196726,2	MCF-7	breast:
2	chr2:234160050..234162260-chr2:234194203..234196902,2	MCF-7	breast:
3	chr2:234159075..234160799-chr2:234195887..234199490,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000085978	Chromatin interaction
ENSG00000252010	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10803619	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929032	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679064	0.85[EUR][1000 genomes]
rs11682236	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11682898	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11890330	0.85[EUR][1000 genomes]
rs11890449	0.85[EUR][1000 genomes]
rs2278610	0.82[EUR][1000 genomes]
rs2289476	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3828308	0.82[EUR][1000 genomes]
rs55754152	0.85[EUR][1000 genomes]
rs56242862	0.85[EUR][1000 genomes]
rs6431252	0.80[EUR][1000 genomes]
rs6748547	0.82[EUR][1000 genomes]
rs72976321	0.80[EUR][1000 genomes]
rs72976324	0.82[EUR][1000 genomes]
rs72976353	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72976366	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7578402	0.85[EUR][1000 genomes]
rs7581670	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585217	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594365	0.85[EUR][1000 genomes]
rs7600743	0.82[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv584699	chr2:234182240-234255547	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234162200-234205200	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:234162200-234205200	Strong transcription	Fetal Muscle Trunk	muscle
3	chr2:234162400-234196400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:234162400-234205200	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr2:234162400-234205400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:234162600-234205000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:234162600-234205200	Strong transcription	Fetal Muscle Leg	muscle
8	chr2:234162800-234197000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:234162800-234205600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:234163200-234206000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:234164200-234205400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:234164200-234205400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:234164400-234196800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:234164400-234197200	Strong transcription	Adipose Nuclei	Adipose
15	chr2:234164600-234206000	Strong transcription	HepG2	liver
16	chr2:234165000-234206000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:234165200-234205400	Strong transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:234166800-234206000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:234169400-234197200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:234172200-234204800	Strong transcription	Placenta	Placenta
21	chr2:234176800-234207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:234177000-234206000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr2:234177200-234205400	Strong transcription	Dnd41	blood
24	chr2:234177800-234197200	Strong transcription	Left Ventricle	heart
25	chr2:234178000-234196400	Strong transcription	Brain Anterior Caudate	brain
26	chr2:234178400-234205200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:234179000-234206200	Strong transcription	Fetal Thymus	thymus
28	chr2:234179200-234205600	Strong transcription	Fetal Brain Female	brain
29	chr2:234179600-234204000	Strong transcription	HUVEC	blood vessel
30	chr2:234179600-234205400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:234179600-234205400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:234179600-234205600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:234179800-234205200	Strong transcription	Primary B cells from peripheral blood	blood
34	chr2:234180800-234206400	Strong transcription	Thymus	Thymus
35	chr2:234181000-234205200	Strong transcription	Liver	Liver
36	chr2:234181400-234216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr2:234182400-234206000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr2:234183000-234204400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:234183200-234197400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:234184200-234197400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr2:234186800-234198200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:234187200-234198200	Weak transcription	Fetal Heart	heart
43	chr2:234187400-234198000	Weak transcription	Fetal Kidney	kidney
44	chr2:234189200-234205200	Strong transcription	Brain Germinal Matrix	brain
45	chr2:234189200-234205400	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:234189200-234205600	Strong transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:234189600-234205200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr2:234189800-234197400	Strong transcription	Lung	lung
49	chr2:234189800-234204600	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr2:234189800-234205200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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