Variant report

Variant	rs1267468
Chromosome Location	chr11:34343483-34343484
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:34340006..34344767-chr11:34350658..34354959,5	MCF-7	breast:
2	chr11:34342106..34344369-chr11:34352747..34354682,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1001179	1.00[YRI][hapmap]
rs11032654	1.00[YRI][hapmap]
rs11032719	1.00[YRI][hapmap]
rs11032722	1.00[YRI][hapmap]
rs11032723	1.00[YRI][hapmap]
rs11032724	1.00[YRI][hapmap]
rs1267467	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17269931	1.00[YRI][hapmap]
rs2231828	1.00[YRI][hapmap]
rs4756135	1.00[YRI][hapmap]
rs494024	1.00[YRI][hapmap]
rs499406	1.00[YRI][hapmap]
rs533425	1.00[YRI][hapmap]
rs560807	1.00[YRI][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	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv818809	chr11:34239730-34354076	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv818810	chr11:34337564-34354076	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	esv2753225	chr11:34338342-34354865	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
11	nsv983001	chr11:34341904-34346211	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1267468	CCDC73	cis	cerebellum	SCAN
rs1267468	APIP	cis	cerebellum	SCAN
rs1267468	CAPRIN1	cis	cerebellum	SCAN
rs1267468	CAT	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34332800-34346200	Weak transcription	Lung	lung
2	chr11:34336200-34358200	Weak transcription	Thymus	Thymus
3	chr11:34337800-34349000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:34338600-34344200	Weak transcription	Fetal Stomach	stomach
5	chr11:34339000-34343600	Weak transcription	Ovary	ovary
6	chr11:34339000-34345800	Weak transcription	Brain Substantia Nigra	brain
7	chr11:34339000-34349000	Weak transcription	Brain Anterior Caudate	brain
8	chr11:34339000-34357400	Weak transcription	Fetal Thymus	thymus
9	chr11:34339200-34345800	Weak transcription	Brain Hippocampus Middle	brain
10	chr11:34340000-34353200	Weak transcription	Small Intestine	intestine
11	chr11:34340200-34346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:34340600-34349200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr11:34340800-34344800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:34340800-34345000	Weak transcription	NHDF-Ad	bronchial
15	chr11:34340800-34349000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:34340800-34352200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:34341000-34344200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:34341000-34345800	Weak transcription	Right Atrium	heart
19	chr11:34341000-34345800	Weak transcription	HSMMtube	muscle
20	chr11:34341000-34346000	Weak transcription	Aorta	Aorta
21	chr11:34341000-34348600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:34341000-34348800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:34341000-34349000	Weak transcription	Pancreas	Pancrea
24	chr11:34341000-34352400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:34341200-34343800	Enhancers	A549	lung
26	chr11:34341200-34345000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:34341200-34348400	Weak transcription	Left Ventricle	heart
28	chr11:34341200-34352200	Weak transcription	HSMM	muscle
29	chr11:34342200-34344800	Weak transcription	Liver	Liver
30	chr11:34342200-34345600	Weak transcription	Psoas Muscle	Psoas
31	chr11:34342400-34345000	Weak transcription	Fetal Muscle Leg	muscle
32	chr11:34342400-34345000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:34342400-34345000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:34343000-34343600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:34343000-34343600	Enhancers	Right Ventricle	heart
36	chr11:34343200-34343600	Enhancers	Placenta	Placenta

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