Variant report

Variant	rs7131531
Chromosome Location	chr11:66577270-66577271
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:66462291..66465179-chr11:66576838..66578973,2	MCF-7	breast:
2	chr11:66574478..66577708-chr11:66578094..66581099,3	K562	blood:
3	chr11:66575889..66578334-chr11:66585490..66587364,2	MCF-7	breast:
4	chr11:66453654..66455914-chr11:66576134..66578557,3	MCF-7	breast:
5	chr11:66576228..66577735-chr11:66577964..66579667,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173898	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11821197	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11821548	1.00[AMR][1000 genomes]
rs11822858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11823149	1.00[AMR][1000 genomes]
rs11823180	1.00[AMR][1000 genomes]
rs11823888	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs11825713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11825882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827300	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828258	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11828658	0.82[AFR][1000 genomes]
rs2511007	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34275473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6591224	1.00[AMR][1000 genomes]
rs7104885	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7105623	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7110020	1.00[AMR][1000 genomes]
rs7114229	1.00[AMR][1000 genomes]
rs7118311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7120487	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7121308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7128335	1.00[AMR][1000 genomes]
rs7925899	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7929435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7940057	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7946173	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7951710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9666734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897789	chr11:66372390-66634397	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv897790	chr11:66414915-66626234	Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv427891	chr11:66456140-66606701	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv468602	chr11:66468469-66634397	Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv555225	chr11:66468469-66634397	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
6	nsv516087	chr11:66516049-66579572	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv508638	chr11:66541653-66643634	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66513400-66606800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:66527000-66595600	Weak transcription	HSMM	muscle
3	chr11:66530000-66605400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:66530200-66582400	Weak transcription	HUVEC	blood vessel
5	chr11:66530600-66600000	Weak transcription	Fetal Muscle Leg	muscle
6	chr11:66530800-66581800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr11:66531200-66577800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:66531400-66578000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:66544000-66609600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:66554600-66605800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:66556200-66577600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr11:66556200-66577600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:66556200-66603000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:66556600-66583600	Weak transcription	Fetal Stomach	stomach
15	chr11:66556600-66586000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:66556800-66589200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr11:66556800-66607400	Weak transcription	Fetal Lung	lung
18	chr11:66557200-66582400	Weak transcription	NHEK	skin
19	chr11:66558000-66583000	Weak transcription	Hela-S3	cervix
20	chr11:66560400-66595600	Weak transcription	A549	lung
21	chr11:66560400-66605400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr11:66561600-66609400	Weak transcription	Colonic Mucosa	Colon
23	chr11:66564000-66580000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:66565000-66605400	Weak transcription	Gastric	stomach
25	chr11:66567000-66601600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr11:66567000-66606800	Weak transcription	Brain Anterior Caudate	brain
27	chr11:66567000-66609800	Weak transcription	Ovary	ovary
28	chr11:66567200-66584400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr11:66567400-66595600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:66568000-66609400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:66568800-66609600	Weak transcription	Fetal Kidney	kidney
32	chr11:66569800-66600000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr11:66570000-66577800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:66570000-66605400	Weak transcription	HSMMtube	muscle
35	chr11:66570000-66606800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr11:66571000-66586600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:66571000-66609400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:66571200-66579400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:66571600-66609600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:66571800-66605400	Weak transcription	Lung	lung
41	chr11:66572000-66578200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:66572000-66582000	Weak transcription	HMEC	breast
43	chr11:66572000-66606600	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:66572000-66609200	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:66572400-66585600	Weak transcription	Primary T cells from cord blood	blood
46	chr11:66572600-66597400	Weak transcription	Fetal Heart	heart
47	chr11:66572800-66582200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:66573200-66581600	Weak transcription	Thymus	Thymus
49	chr11:66573200-66582000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:66573200-66590000	Weak transcription	Fetal Muscle Trunk	muscle

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