Variant report

Variant	rs543451327
Chromosome Location	chr11:77441691-77441692
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	POLR2A	chr11:77441641-77442228	H1-hESC	embryonic stem cell:	n/a	n/a
2	KAP1	chr11:77441547-77442091	K562	blood:	n/a	n/a
3	SETDB1	chr11:77441646-77442216	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77435507..77439532-chr11:77440099..77442814,3	K562	blood:
2	chr11:77440760..77442573-chr11:77444032..77446751,2	K562	blood:

Variant related genes	Relation type
RSF1	TF binding region
ENSG00000227376	Chromatin interaction
ENSG00000048649	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv975951	chr11:77440719-77446428	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	2 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	chr11:77391600-77442000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:77394600-77441800	Weak transcription	Spleen	Spleen
3	chr11:77394600-77445600	Weak transcription	Esophagus	oesophagus
4	chr11:77394600-77458800	Weak transcription	Small Intestine	intestine
5	chr11:77394800-77462600	Weak transcription	Fetal Heart	heart
6	chr11:77403200-77442200	Weak transcription	Brain Anterior Caudate	brain
7	chr11:77404600-77441800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:77407200-77448000	Weak transcription	K562	blood
9	chr11:77409600-77441800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr11:77409600-77453400	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:77409600-77458800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:77409600-77478200	Weak transcription	Brain Angular Gyrus	brain
13	chr11:77409800-77441800	Weak transcription	Colon Smooth Muscle	Colon
14	chr11:77410400-77477600	Weak transcription	Brain Substantia Nigra	brain
15	chr11:77412800-77441800	Weak transcription	Fetal Brain Male	brain
16	chr11:77416800-77441800	Weak transcription	NHEK	skin
17	chr11:77417200-77442000	Weak transcription	HUVEC	blood vessel
18	chr11:77424400-77442000	Weak transcription	Right Ventricle	heart
19	chr11:77428600-77442000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr11:77431600-77482400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr11:77433800-77441800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:77434800-77442200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:77436000-77441800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:77436000-77441800	Weak transcription	Brain Germinal Matrix	brain
25	chr11:77436000-77441800	Weak transcription	Fetal Lung	lung
26	chr11:77436000-77441800	Weak transcription	Psoas Muscle	Psoas
27	chr11:77436000-77442200	Weak transcription	Fetal Stomach	stomach
28	chr11:77436000-77442600	Weak transcription	Pancreas	Pancrea
29	chr11:77436200-77441800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr11:77436200-77441800	Weak transcription	Primary hematopoietic stem cells	blood
31	chr11:77436200-77441800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr11:77436200-77441800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr11:77436200-77441800	Weak transcription	Adipose Nuclei	Adipose
34	chr11:77436200-77441800	Weak transcription	Fetal Kidney	kidney
35	chr11:77436200-77441800	Weak transcription	Left Ventricle	heart
36	chr11:77436200-77441800	Weak transcription	Lung	lung
37	chr11:77436200-77441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr11:77436200-77441800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr11:77436200-77441800	Weak transcription	Thymus	Thymus
40	chr11:77436200-77441800	Weak transcription	Dnd41	blood
41	chr11:77436200-77442000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:77436200-77442000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr11:77436200-77442000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:77436200-77442000	Weak transcription	Liver	Liver
45	chr11:77436200-77442200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:77436200-77442200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr11:77436200-77442200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:77436200-77442600	Weak transcription	Ovary	ovary
49	chr11:77436200-77445400	Weak transcription	NHLF	lung
50	chr11:77436200-77445600	Weak transcription	Gastric	stomach

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