Variant report

Variant	rs12223233
Chromosome Location	chr11:16919016-16919017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:16918607..16920232-chr8:87576439..87578551,2	MCF-7	breast:
2	chr11:16912383..16915657-chr11:16918244..16920114,3	K562	blood:
3	chr11:16912383..16915251-chr11:16918244..16921230,3	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11024058	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11024059	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11024061	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11024069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11024071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11024073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12223369	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17698419	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17772101	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4756868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4756870	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4757441	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55814202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61496580	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72864090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72864092	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72864100	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832077	chr11:16834545-17059176	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv7688	chr11:16912759-16939804	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2757425	chr11:16915291-16934130	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
4	esv2759805	chr11:16915291-16934130	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1038987	chr11:16916438-16927022	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2754709	chr11:16917219-16927022	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:16912200-16923600	Weak transcription	A549	lung
2	chr11:16912400-16919400	Weak transcription	Liver	Liver
3	chr11:16913800-16921800	Enhancers	Fetal Heart	heart
4	chr11:16914000-16927400	Weak transcription	HSMMtube	muscle
5	chr11:16914400-16919200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:16914600-16921200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:16915800-16921400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:16915800-16921400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:16915800-16922800	Weak transcription	HMEC	breast
10	chr11:16916000-16923000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:16916000-16924400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr11:16916000-16931000	Weak transcription	Spleen	Spleen
13	chr11:16916800-16920200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:16917200-16919400	Enhancers	Gastric	stomach
15	chr11:16917600-16919200	Weak transcription	NHDF-Ad	bronchial
16	chr11:16917600-16920200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:16917800-16919200	Enhancers	Brain Germinal Matrix	brain
18	chr11:16917800-16922000	Enhancers	Stomach Mucosa	stomach
19	chr11:16918000-16919600	Enhancers	Right Ventricle	heart
20	chr11:16918200-16919200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr11:16918200-16919800	Enhancers	Fetal Lung	lung
22	chr11:16918200-16922400	Enhancers	Fetal Intestine Large	intestine
23	chr11:16918200-16924800	Weak transcription	Colonic Mucosa	Colon
24	chr11:16918400-16919200	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr11:16918400-16919200	Enhancers	Pancreas	Pancrea
26	chr11:16918400-16919600	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr11:16918400-16919800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr11:16918400-16919800	Enhancers	Small Intestine	intestine
29	chr11:16918400-16920600	Enhancers	H9 Cell Line	embryonic stem cell
30	chr11:16918600-16919200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr11:16918600-16919200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:16918600-16919400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr11:16918600-16919400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr11:16918600-16919400	Weak transcription	Fetal Kidney	kidney
35	chr11:16918600-16920400	Enhancers	Brain Anterior Caudate	brain
36	chr11:16918600-16922000	Enhancers	Duodenum Mucosa	Duodenum
37	chr11:16918800-16919200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr11:16918800-16919600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:16918800-16919800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr11:16918800-16920000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:16918800-16920200	Enhancers	Adipose Nuclei	Adipose
42	chr11:16918800-16920200	Enhancers	Brain Hippocampus Middle	brain
43	chr11:16919000-16919200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
44	chr11:16919000-16919200	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:16919000-16919200	Enhancers	Brain Substantia Nigra	brain
46	chr11:16919000-16919200	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr11:16919000-16919400	Genic enhancers	Fetal Intestine Small	intestine
48	chr11:16919000-16919600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:16919000-16919600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr11:16919000-16919600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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