Variant report

Variant	rs681797
Chromosome Location	chr11:64130876-64130877
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:64014412..64017263-chr11:64129523..64131741,2	MCF-7	breast:
2	chr11:64130858..64133466-chr11:64138873..64141793,3	K562	blood:
3	chr11:64129822..64132037-chr11:64139114..64141435,2	MCF-7	breast:
4	chr11:64122719..64124795-chr11:64130690..64132414,2	K562	blood:

Variant related genes	Relation type
ENSG00000173457	Chromatin interaction
ENSG00000257086	Chromatin interaction
ENSG00000256940	Chromatin interaction
ENSG00000168071	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1199175	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1318165	0.83[AMR][1000 genomes]
rs477909	1.00[AMR][1000 genomes]
rs483515	1.00[ASW][hapmap];1.00[AMR][1000 genomes]
rs484384	1.00[AMR][1000 genomes]
rs488760	0.83[AMR][1000 genomes]
rs494403	1.00[ASW][hapmap];0.92[LWK][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs497595	0.85[AFR][1000 genomes]
rs499455	1.00[ASW][hapmap];0.92[LWK][hapmap];0.86[AFR][1000 genomes]
rs512372	0.83[AMR][1000 genomes]
rs513264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs523525	1.00[AMR][1000 genomes]
rs545916	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs550819	0.83[AMR][1000 genomes]
rs558105	0.83[AMR][1000 genomes]
rs558864	1.00[MKK][hapmap];0.83[AMR][1000 genomes]
rs564687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs565221	0.87[ASW][hapmap];1.00[MKK][hapmap];0.83[AMR][1000 genomes]
rs566049	0.84[MKK][hapmap];0.83[AMR][1000 genomes]
rs571379	0.83[AMR][1000 genomes]
rs590103	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs601845	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614047	0.81[MKK][hapmap];0.83[AMR][1000 genomes]
rs632654	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs648220	1.00[AMR][1000 genomes]
rs649463	1.00[AMR][1000 genomes]
rs652611	0.84[MKK][hapmap];0.83[AMR][1000 genomes]
rs676931	0.84[MKK][hapmap];0.83[AMR][1000 genomes]
rs7941847	0.84[MKK][hapmap];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
2	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
3	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
4	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
5	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer 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 miRNA target site	237 gene(s)	inside rSNPs	diseases
6	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
7	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
8	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
10	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
11	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
12	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
13	nsv897688	chr11:64107735-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv897689	chr11:64109118-64148420	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
15	nsv897690	chr11:64118422-64135298	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
16	nsv897691	chr11:64118422-64137875	Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
17	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64127400-64131600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr11:64127400-64136000	Weak transcription	Fetal Kidney	kidney
3	chr11:64127400-64140000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:64127400-64144400	Weak transcription	Psoas Muscle	Psoas
5	chr11:64127600-64132800	Weak transcription	Small Intestine	intestine
6	chr11:64127600-64139600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:64127800-64131600	Weak transcription	Right Atrium	heart
8	chr11:64127800-64132800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr11:64127800-64137600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:64127800-64139800	Strong transcription	Fetal Intestine Small	intestine
11	chr11:64127800-64146800	Weak transcription	Fetal Heart	heart
12	chr11:64128000-64131000	Strong transcription	A549	lung
13	chr11:64128000-64131800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:64128000-64133800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr11:64128000-64135400	Strong transcription	Fetal Stomach	stomach
16	chr11:64128000-64135800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:64128000-64136200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr11:64128000-64138000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:64128000-64138200	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:64128000-64138200	Strong transcription	Left Ventricle	heart
21	chr11:64128000-64138800	Strong transcription	Ovary	ovary
22	chr11:64128000-64139000	Strong transcription	Primary T cells from cord blood	blood
23	chr11:64128000-64139000	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:64128000-64140000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:64128200-64131000	Strong transcription	Right Ventricle	heart
26	chr11:64128200-64131000	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr11:64128200-64131000	Strong transcription	NHLF	lung
28	chr11:64128200-64131200	Strong transcription	Pancreas	Pancrea
29	chr11:64128200-64131400	Strong transcription	Esophagus	oesophagus
30	chr11:64128200-64132400	Weak transcription	Brain Germinal Matrix	brain
31	chr11:64128200-64133400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:64128200-64134600	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:64128200-64135600	Strong transcription	NH-A	brain
34	chr11:64128200-64135800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr11:64128200-64137000	Strong transcription	Colon Smooth Muscle	Colon
36	chr11:64128200-64138200	Strong transcription	Stomach Smooth Muscle	stomach
37	chr11:64128200-64138400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr11:64128200-64138800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:64128200-64138800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr11:64128200-64139400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr11:64128200-64139600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:64128200-64139600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr11:64128200-64139800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:64128200-64140000	Strong transcription	Lung	lung
45	chr11:64128400-64131200	Strong transcription	HSMMtube	muscle
46	chr11:64128400-64131400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr11:64128400-64133800	Strong transcription	NHEK	skin
48	chr11:64128400-64134000	Weak transcription	Fetal Brain Male	brain
49	chr11:64128400-64135600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr11:64128400-64135600	Strong transcription	Fetal Intestine Large	intestine

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