Variant report

Variant	rs17161976
Chromosome Location	chr11:71818918-71818919
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:71818780-71818930	Caco-2	colon:	n/a	n/a
2	POLR2A	chr11:71818398-71821929	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr11:71818909-71819086	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:71818013..71820422-chr11:71937441..71939069,2	MCF-7	breast:
2	chr11:71817497..71819718-chr11:71852568..71855106,2	MCF-7	breast:
3	chr11:71785228..71787709-chr11:71818324..71820591,2	K562	blood:

Variant related genes	Relation type
LAMTOR1	TF binding region
ENSG00000165458	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17161699	1.00[ASW][hapmap];0.86[LWK][hapmap];1.00[YRI][hapmap]
rs17161725	1.00[ASW][hapmap]
rs17161758	1.00[ASW][hapmap]
rs58632683	0.86[AFR][1000 genomes]
rs7114081	1.00[ASW][hapmap];0.81[YRI][hapmap]
rs7122209	1.00[ASW][hapmap]
rs7124429	0.81[YRI][hapmap]
rs7932263	1.00[YRI][hapmap]
rs7949430	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs7951267	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
2	nsv983187	chr11:71815746-71821103	Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71814800-71820200	Weak transcription	Aorta	Aorta
2	chr11:71814800-71822600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:71815000-71819000	Weak transcription	Esophagus	oesophagus
4	chr11:71815000-71820400	Weak transcription	Colonic Mucosa	Colon
5	chr11:71815000-71820800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:71815000-71822200	Weak transcription	HSMMtube	muscle
7	chr11:71815000-71822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:71815000-71822400	Weak transcription	HMEC	breast
9	chr11:71815000-71822400	Weak transcription	HUVEC	blood vessel
10	chr11:71815000-71822600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:71815000-71822800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:71815000-71822800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:71815000-71823000	Weak transcription	Small Intestine	intestine
14	chr11:71815200-71819000	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr11:71815200-71819200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:71815200-71819200	Weak transcription	Placenta	Placenta
17	chr11:71815200-71819600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:71815200-71819600	Weak transcription	Right Ventricle	heart
19	chr11:71815200-71820200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:71815200-71820200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:71815200-71820200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr11:71815200-71820600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr11:71815200-71820600	Weak transcription	A549	lung
24	chr11:71815200-71821000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:71815200-71821000	Weak transcription	NH-A	brain
26	chr11:71815200-71822200	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:71815200-71822200	Weak transcription	Fetal Lung	lung
28	chr11:71815200-71822200	Weak transcription	GM12878-XiMat	blood
29	chr11:71815200-71822400	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:71815200-71822400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr11:71815200-71822400	Weak transcription	Fetal Brain Male	brain
32	chr11:71815200-71822600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:71815200-71822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:71815200-71822600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:71815200-71822600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:71815200-71822600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:71815200-71822600	Weak transcription	Fetal Kidney	kidney
38	chr11:71815200-71822600	Weak transcription	Osteobl	bone
39	chr11:71815200-71822800	Weak transcription	Left Ventricle	heart
40	chr11:71815400-71819000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr11:71815400-71819200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:71815400-71819200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:71815400-71819200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr11:71815400-71819200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr11:71815400-71819200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:71815400-71819800	Weak transcription	Brain Hippocampus Middle	brain
47	chr11:71815400-71822000	Weak transcription	Primary B cells from cord blood	blood
48	chr11:71815400-71822000	Weak transcription	Hela-S3	cervix
49	chr11:71815400-71822400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:71815400-71822400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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