Variant report

Variant	rs7768688
Chromosome Location	chr6:140085728-140085729
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139695341..139697073-chr6:140085374..140087586,2	MCF-7	breast:
2	chr6:140081301..140083675-chr6:140083815..140085974,2	MCF-7	breast:
3	chr6:140028951..140031620-chr6:140084219..140086898,2	K562	blood:
4	chr6:140055856..140059094-chr6:140083948..140086975,3	K562	blood:
5	chr6:139694058..139697860-chr6:140083167..140088670,5	MCF-7	breast:
6	chr6:140077496..140081190-chr6:140083108..140086275,5	K562	blood:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11963806	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12110570	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144165	1.00[ASN][1000 genomes]
rs2179995	1.00[ASN][1000 genomes]
rs2179996	1.00[ASN][1000 genomes]
rs2207334	1.00[ASN][1000 genomes]
rs3001016	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs3015438	1.00[CEU][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3918473	1.00[ASN][1000 genomes]
rs3946063	1.00[ASN][1000 genomes]
rs4403279	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6570382	1.00[ASN][1000 genomes]
rs6570383	1.00[ASN][1000 genomes]
rs6900161	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6900843	0.87[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912157	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6917570	1.00[ASN][1000 genomes]
rs6917808	1.00[ASN][1000 genomes]
rs6939887	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72986790	1.00[ASN][1000 genomes]
rs7743495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7745714	1.00[ASN][1000 genomes]
rs7746560	1.00[ASN][1000 genomes]
rs7750105	1.00[ASN][1000 genomes]
rs7761684	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7762012	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775904	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9376470	1.00[ASN][1000 genomes]
rs9399296	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv464065	chr6:140027836-140085873	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv604766	chr6:140027836-140085873	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv830820	chr6:140059279-140255292	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140073000-140089400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr6:140077000-140085800	Weak transcription	Fetal Kidney	kidney
3	chr6:140077400-140085800	Weak transcription	Pancreas	Pancrea
4	chr6:140079800-140090400	Weak transcription	Aorta	Aorta
5	chr6:140082400-140089400	Weak transcription	Psoas Muscle	Psoas
6	chr6:140083000-140086600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr6:140083200-140085800	Enhancers	NHDF-Ad	bronchial
8	chr6:140083200-140086400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr6:140083200-140086400	Enhancers	Fetal Heart	heart
10	chr6:140083200-140087400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:140083200-140088200	Enhancers	HSMM	muscle
12	chr6:140083400-140088200	Enhancers	HSMMtube	muscle
13	chr6:140083400-140090200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr6:140083600-140085800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:140083600-140086200	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr6:140083600-140087800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:140083600-140087800	Enhancers	Hela-S3	cervix
18	chr6:140083600-140087800	Enhancers	HUVEC	blood vessel
19	chr6:140083600-140088200	Enhancers	K562	blood
20	chr6:140083800-140085800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr6:140083800-140085800	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr6:140083800-140087600	Enhancers	NH-A	brain
23	chr6:140083800-140087800	Enhancers	NHLF	lung
24	chr6:140084000-140089400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:140084200-140085800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:140084200-140086200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:140084600-140085800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr6:140084600-140087600	Enhancers	HMEC	breast
29	chr6:140084800-140086000	Weak transcription	Primary B cells from cord blood	blood
30	chr6:140085000-140085800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr6:140085000-140085800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:140085000-140085800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:140085000-140086000	Enhancers	Fetal Muscle Leg	muscle
34	chr6:140085000-140086400	Enhancers	Adipose Nuclei	Adipose
35	chr6:140085000-140086400	Enhancers	Fetal Lung	lung
36	chr6:140085000-140086400	Enhancers	Fetal Stomach	stomach
37	chr6:140085000-140087200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:140085000-140087600	Enhancers	Rectal Smooth Muscle	rectum
39	chr6:140085000-140087800	Enhancers	Colon Smooth Muscle	Colon
40	chr6:140085000-140088000	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr6:140085200-140086000	Enhancers	Left Ventricle	heart
42	chr6:140085200-140086000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr6:140085200-140086400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:140085200-140086400	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr6:140085200-140086400	Flanking Active TSS	A549	lung
46	chr6:140085200-140086400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
47	chr6:140085200-140086600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr6:140085200-140086600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr6:140085200-140086600	Enhancers	Stomach Smooth Muscle	stomach
50	chr6:140085200-140087200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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