Variant report

Variant	rs11751548
Chromosome Location	chr6:72002276-72002277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:71994194..71996455-chr6:72002146..72004054,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232295	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1044762	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1056849	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1135027	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968687	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13209437	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13216841	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1535524	0.93[CEU][hapmap]
rs1885674	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2295956	0.83[CEU][hapmap]
rs34141332	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34724667	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35051193	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4707910	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4707912	0.80[CEU][hapmap]
rs62406869	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67216056	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6929250	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6934130	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7742362	0.87[CHB][hapmap];0.85[JPT][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7748559	0.94[CEU][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7750007	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7773129	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs828629	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795873	chr6:71997278-72005794	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv1841286	chr6:71997278-72006512	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	esv1802752	chr6:71998480-72005794	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71997800-72003000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr6:71999200-72003600	Weak transcription	Spleen	Spleen
3	chr6:71999200-72003800	Weak transcription	Gastric	stomach
4	chr6:71999200-72003800	Weak transcription	Ovary	ovary
5	chr6:71999600-72002600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr6:71999600-72003800	Weak transcription	Stomach Mucosa	stomach
7	chr6:71999600-72012600	Weak transcription	Colonic Mucosa	Colon
8	chr6:71999800-72003400	Weak transcription	Liver	Liver
9	chr6:71999800-72003600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:71999800-72003600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr6:71999800-72003600	Weak transcription	Lung	lung
12	chr6:71999800-72003800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:71999800-72003800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:71999800-72003800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:71999800-72003800	Weak transcription	Esophagus	oesophagus
16	chr6:71999800-72003800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:71999800-72003800	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:71999800-72003800	Weak transcription	Pancreas	Pancrea
19	chr6:71999800-72008000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr6:71999800-72008200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr6:71999800-72008400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:71999800-72010400	Weak transcription	Primary T cells from cord blood	blood
23	chr6:71999800-72011200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:71999800-72015200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr6:71999800-72033800	Weak transcription	Right Ventricle	heart
26	chr6:72000000-72003600	Weak transcription	NH-A	brain
27	chr6:72000000-72003800	Weak transcription	Fetal Stomach	stomach
28	chr6:72000000-72007800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr6:72000000-72008000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:72000000-72009400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr6:72000000-72012800	Weak transcription	Brain Germinal Matrix	brain
32	chr6:72000000-72013200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr6:72000000-72014200	Weak transcription	Thymus	Thymus
34	chr6:72000000-72015400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr6:72000200-72002600	Active TSS	Brain Hippocampus Middle	brain
36	chr6:72000200-72004000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr6:72000400-72003800	Weak transcription	Fetal Intestine Large	intestine
38	chr6:72000600-72003000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:72000600-72003400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr6:72000600-72003800	Weak transcription	Placenta	Placenta
41	chr6:72000600-72003800	Weak transcription	Fetal Thymus	thymus
42	chr6:72000600-72003800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:72000600-72009400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr6:72000800-72017600	Weak transcription	Fetal Heart	heart
45	chr6:72001000-72008400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr6:72001000-72012000	Weak transcription	Colon Smooth Muscle	Colon
47	chr6:72001000-72021600	Weak transcription	Fetal Lung	lung
48	chr6:72001000-72038800	Weak transcription	Aorta	Aorta
49	chr6:72001200-72005000	Enhancers	NHLF	lung
50	chr6:72001400-72003600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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