Variant report

Variant	rs11823300
Chromosome Location	chr11:120199080-120199081
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	chr11:120105904..120108316-chr11:120197614..120199213,2	K562	blood:
2	chr11:120196351..120198435-chr11:120198442..120200347,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181264	Chromatin interaction
ENSG00000137709	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10502235	0.94[ASN][1000 genomes]
rs10790378	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10790380	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10892562	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10892563	0.85[EUR][1000 genomes]
rs10892564	0.85[EUR][1000 genomes]
rs10892567	0.82[EUR][1000 genomes]
rs11217821	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11217840	0.84[EUR][1000 genomes]
rs11217841	0.83[EUR][1000 genomes]
rs11824032	0.84[ASN][1000 genomes]
rs11827818	0.95[ASN][1000 genomes]
rs12361632	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12417581	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12785387	0.86[ASN][1000 genomes]
rs12787285	0.85[EUR][1000 genomes]
rs12806740	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1812974	0.86[ASN][1000 genomes]
rs1892894	0.81[EUR][1000 genomes]
rs1893261	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34298380	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36011588	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4381380	0.82[AMR][1000 genomes]
rs4539328	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4936517	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4938799	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4938801	0.85[EUR][1000 genomes]
rs4938802	0.84[ASN][1000 genomes]
rs4938804	0.80[EUR][1000 genomes]
rs4938806	0.82[AMR][1000 genomes]
rs61898351	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6589810	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6589811	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7101415	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7104639	0.81[EUR][1000 genomes]
rs7117063	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7117321	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7121779	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7126413	0.90[EUR][1000 genomes]
rs7131046	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7924772	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7924963	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7924975	0.84[EUR][1000 genomes]
rs7932658	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7952529	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9633950	0.81[EUR][1000 genomes]

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	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120196400-120206400	Weak transcription	Gastric	stomach
2	chr11:120196600-120200600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:120196600-120200800	Weak transcription	Esophagus	oesophagus
4	chr11:120196800-120200600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:120196800-120205800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:120196800-120205800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:120196800-120206200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:120197000-120199200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr11:120197000-120199200	Weak transcription	Spleen	Spleen
10	chr11:120197000-120199400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:120197000-120200600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr11:120197000-120200800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:120197000-120201800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:120197200-120199200	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:120197200-120199200	Weak transcription	Fetal Kidney	kidney
16	chr11:120197200-120199400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr11:120197200-120199600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:120197200-120200600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr11:120197200-120200600	Weak transcription	Adipose Nuclei	Adipose
20	chr11:120197200-120200600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr11:120197200-120200600	Weak transcription	Fetal Stomach	stomach
22	chr11:120197200-120200600	Weak transcription	Left Ventricle	heart
23	chr11:120197200-120200800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:120197200-120201000	Weak transcription	HMEC	breast
25	chr11:120197200-120205800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:120197200-120205800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr11:120197400-120199200	Enhancers	NHDF-Ad	bronchial
28	chr11:120197400-120200600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:120197400-120200600	Enhancers	Fetal Heart	heart
30	chr11:120197400-120200600	Weak transcription	NHEK	skin
31	chr11:120197400-120200800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:120197600-120200600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:120197600-120200600	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr11:120197600-120205800	Weak transcription	Liver	Liver
35	chr11:120197800-120199200	Weak transcription	Colon Smooth Muscle	Colon
36	chr11:120197800-120199400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:120197800-120199600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:120197800-120199800	Weak transcription	HUVEC	blood vessel
39	chr11:120197800-120200400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:120197800-120200600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:120197800-120200600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:120197800-120200600	Weak transcription	Aorta	Aorta
43	chr11:120197800-120200600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:120197800-120205600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr11:120198000-120199200	Weak transcription	K562	blood
46	chr11:120198000-120199400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:120198000-120199400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:120198000-120200600	Weak transcription	Fetal Muscle Leg	muscle
49	chr11:120198000-120205200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr11:120198000-120205600	Enhancers	Hela-S3	cervix

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