Variant report

Variant	rs6748547
Chromosome Location	chr2:234202766-234202767
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234198593..234200622-chr2:234201645..234204426,2	MCF-7	breast:
2	chr2:234195943..234198419-chr2:234201590..234203140,2	MCF-7	breast:
3	chr2:234200856..234204903-chr2:234205910..234207803,3	MCF-7	breast:
4	chr2:234200910..234203071-chr2:234204353..234205943,2	MCF-7	breast:
5	chr2:234201699..234203441-chr2:234207264..234209148,2	K562	blood:

Variant related genes	Relation type
ENSG00000085978	Chromatin interaction
ENSG00000251791	Chromatin interaction

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

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

rs_ID	r²[population]
rs1000548	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs10803619	0.82[ASW][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10929032	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11679064	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11682236	0.82[ASW][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11682898	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap]
rs11890330	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11890449	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2278610	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2289476	1.00[CHB][hapmap];0.89[GIH][hapmap]
rs2304775	0.87[ASN][1000 genomes]
rs3828307	0.82[CEU][hapmap]
rs3828308	1.00[CHB][hapmap];0.84[JPT][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs55754152	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55895356	0.87[ASN][1000 genomes]
rs56242862	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59303693	0.87[ASN][1000 genomes]
rs6431252	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6719241	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.85[YRI][hapmap];0.93[ASN][1000 genomes]
rs6753686	0.82[EUR][1000 genomes]
rs72976321	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72976324	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72976353	0.84[AMR][1000 genomes]
rs72976366	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7564805	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7565275	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap]
rs7578402	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7581670	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7583380	1.00[CEU][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs7585217	1.00[CHB][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap]
rs7594365	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7594781	0.87[ASN][1000 genomes]
rs7600743	1.00[ASW][hapmap];0.82[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

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	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
2	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 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	chr2:234162400-234205200	Strong transcription	H1 Cell Line	embryonic stem cell
4	chr2:234162400-234205400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:234162600-234205000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:234162600-234205200	Strong transcription	Fetal Muscle Leg	muscle
7	chr2:234162800-234205600	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:234163200-234206000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:234164200-234205400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:234164200-234205400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:234164600-234206000	Strong transcription	HepG2	liver
12	chr2:234165000-234206000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr2:234165200-234205400	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr2:234166800-234206000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:234172200-234204800	Strong transcription	Placenta	Placenta
16	chr2:234176800-234207800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:234177000-234206000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:234177200-234205400	Strong transcription	Dnd41	blood
19	chr2:234178400-234205200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:234179000-234206200	Strong transcription	Fetal Thymus	thymus
21	chr2:234179200-234205600	Strong transcription	Fetal Brain Female	brain
22	chr2:234179600-234204000	Strong transcription	HUVEC	blood vessel
23	chr2:234179600-234205400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:234179600-234205400	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr2:234179600-234205600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:234179800-234205200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr2:234180800-234206400	Strong transcription	Thymus	Thymus
28	chr2:234181000-234205200	Strong transcription	Liver	Liver
29	chr2:234181400-234216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr2:234182400-234206000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:234183000-234204400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr2:234189200-234205200	Strong transcription	Brain Germinal Matrix	brain
33	chr2:234189200-234205400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr2:234189200-234205600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:234189600-234205200	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr2:234189800-234204600	Strong transcription	Placenta Amnion	Placenta Amnion
37	chr2:234189800-234205200	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr2:234190000-234205000	Strong transcription	Aorta	Aorta
39	chr2:234190000-234205600	Strong transcription	Fetal Intestine Small	intestine
40	chr2:234190200-234205400	Strong transcription	Spleen	Spleen
41	chr2:234190600-234205600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr2:234190600-234206600	Strong transcription	Fetal Stomach	stomach
43	chr2:234192000-234206000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:234192400-234205000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr2:234193000-234205000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:234193000-234205000	Strong transcription	NHEK	skin
47	chr2:234193000-234205200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:234193000-234205200	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:234193000-234205200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr2:234193000-234205400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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