Variant report

Variant	rs11187969
Chromosome Location	chr10:96231169-96231170
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	chr10:96229826..96232766-chr10:96233310..96236009,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10509672	1.00[YRI][hapmap]
rs10882476	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11187837	1.00[YRI][hapmap]
rs11187852	1.00[YRI][hapmap]
rs11187864	1.00[YRI][hapmap]
rs11187870	1.00[YRI][hapmap]
rs11187895	1.00[YRI][hapmap]
rs11187897	1.00[YRI][hapmap]
rs11187933	0.81[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap]
rs11187953	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11187968	0.81[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs11187971	0.81[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11187974	0.80[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11527882	0.81[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12217792	1.00[YRI][hapmap]
rs12220941	0.81[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap]
rs7093613	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs7910469	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761616	chr10:95966768-96303701	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv1819509	chr10:96064300-96361776	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1053747	chr10:96211618-96366396	Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11187969	SORBS1	cis	parietal	SCAN
rs11187969	ENTPD1	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96190800-96234600	Weak transcription	Osteobl	bone
2	chr10:96203000-96239600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr10:96203400-96242800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:96204200-96243400	Weak transcription	Stomach Smooth Muscle	stomach
5	chr10:96210200-96248800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr10:96211600-96292200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:96212600-96248600	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr10:96213000-96234400	Weak transcription	HSMM	muscle
9	chr10:96215600-96255200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr10:96216600-96243600	Weak transcription	Brain Anterior Caudate	brain
11	chr10:96218800-96235000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr10:96219800-96235200	Weak transcription	Left Ventricle	heart
13	chr10:96219800-96239600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr10:96219800-96242800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr10:96219800-96283400	Weak transcription	Lung	lung
16	chr10:96220000-96248800	Weak transcription	Colonic Mucosa	Colon
17	chr10:96220600-96234200	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr10:96221800-96238000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr10:96221800-96255600	Weak transcription	Ovary	ovary
20	chr10:96222200-96237200	Weak transcription	Liver	Liver
21	chr10:96222800-96255800	Weak transcription	HepG2	liver
22	chr10:96223200-96293600	Weak transcription	NHDF-Ad	bronchial
23	chr10:96223400-96231800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr10:96223400-96237600	Weak transcription	Fetal Intestine Small	intestine
25	chr10:96223400-96240200	Weak transcription	Brain Hippocampus Middle	brain
26	chr10:96223600-96237200	Weak transcription	Fetal Lung	lung
27	chr10:96223600-96242600	Weak transcription	Fetal Muscle Leg	muscle
28	chr10:96224000-96234600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr10:96224400-96237400	Weak transcription	Fetal Stomach	stomach
30	chr10:96227800-96237200	Weak transcription	Small Intestine	intestine
31	chr10:96227800-96255600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:96228000-96237200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr10:96228000-96243200	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr10:96228600-96242200	Weak transcription	Brain Germinal Matrix	brain
35	chr10:96228600-96242400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr10:96230000-96243000	Weak transcription	Brain Substantia Nigra	brain
37	chr10:96230200-96242000	Weak transcription	Brain Cingulate Gyrus	brain
38	chr10:96230400-96244000	Weak transcription	Pancreas	Pancrea
39	chr10:96230600-96237200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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