Variant report

Variant	rs643997
Chromosome Location	chr11:65199599-65199600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65198485..65199995-chr5:148212922..148215900,2	K562	blood:
2	chr11:65178877..65218546-chr11:65218612..65286191,1014	K562	blood:
3	chr11:65199058..65199992-chr9:127630443..127631367,2	Hela-S3	cervix:
4	chr11:65198493..65201385-chr7:104654678..104656310,2	K562	blood:
5	chr11:65198848..65200722-chr9:96213819..96216666,2	K562	blood:
6	chr11:65101528..65104353-chr11:65197990..65200376,2	K562	blood:
7	chr11:65197155..65199898-chr17:56707507..56709939,2	MCF-7	breast:
8	chr11:65185186..65203592-chr11:65286522..65299399,55	K562	blood:
9	chr11:65198343..65201716-chr11:65325615..65327265,3	K562	blood:
10	chr11:65197049..65199847-chr11:65380940..65383242,3	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LTBP3-2	chr11:65193086-65204597	NONHSAT022110

No data

Variant related genes	Relation type
ENSG00000270117	Chromatin interaction
ENSG00000270526	Chromatin interaction
ENSG00000142186	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000239569	Chromatin interaction
ENSG00000048828	Chromatin interaction
ENSG00000173327	Chromatin interaction
ENSG00000168056	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000173727	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs635411	0.83[AMR][1000 genomes]
rs674400	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
3	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
4	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
7	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
8	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
9	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	833 gene(s)	inside rSNPs	diseases
10	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
11	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
12	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
13	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription 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	972 gene(s)	inside rSNPs	diseases
14	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
15	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
16	nsv541072	chr11:65171202-65313799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	946 gene(s)	inside rSNPs	diseases
17	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
18	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 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	chr11:65190400-65199800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:65190400-65200400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
3	chr11:65190600-65206600	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:65190800-65201000	Transcr. at gene 5' and 3'	Osteobl	bone
5	chr11:65191000-65206800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:65192800-65200600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr11:65193800-65209800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr11:65195000-65200000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:65195000-65200400	Enhancers	Primary B cells from peripheral blood	blood
10	chr11:65195200-65200000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr11:65195400-65200000	Transcr. at gene 5' and 3'	HUVEC	blood vessel
12	chr11:65195600-65201600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:65195800-65201400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:65195800-65202000	Weak transcription	Ovary	ovary
15	chr11:65196000-65200200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:65196000-65201600	Weak transcription	Gastric	stomach
17	chr11:65197200-65200000	Genic enhancers	Dnd41	blood
18	chr11:65197200-65200600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
19	chr11:65197400-65201600	Weak transcription	Small Intestine	intestine
20	chr11:65197400-65207600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:65197800-65199600	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr11:65197800-65199800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:65197800-65199800	Active TSS	Psoas Muscle	Psoas
24	chr11:65197800-65200400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:65197800-65201200	Weak transcription	Lung	lung
26	chr11:65197800-65201600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:65197800-65201600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:65197800-65201600	Weak transcription	Fetal Intestine Large	intestine
29	chr11:65197800-65201600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr11:65197800-65201600	Weak transcription	Pancreas	Pancrea
31	chr11:65197800-65201600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:65197800-65201600	Weak transcription	Spleen	Spleen
33	chr11:65197800-65201800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:65197800-65201800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:65197800-65203000	Weak transcription	Esophagus	oesophagus
36	chr11:65197800-65206800	Weak transcription	Fetal Brain Male	brain
37	chr11:65197800-65209200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:65198000-65200400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:65198000-65201400	Weak transcription	Left Ventricle	heart
40	chr11:65198000-65201600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:65198000-65209400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr11:65198000-65216000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:65198200-65199600	Active TSS	Rectal Mucosa Donor 29	rectum
44	chr11:65198200-65199800	Weak transcription	Colonic Mucosa	Colon
45	chr11:65198200-65199800	Enhancers	Hela-S3	cervix
46	chr11:65198200-65200200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr11:65198200-65200400	Genic enhancers	K562	blood
48	chr11:65198200-65200600	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:65198200-65200600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr11:65198200-65200600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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