Variant report

Variant	rs190036131
Chromosome Location	chr11:68283270-68283271
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr11:68283264-68283624	K562	blood:	n/a	chr11:68283434-68283445
2	IRF1	chr11:68283265-68283371	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:68227166..68229469-chr11:68283239..68284838,2	MCF-7	breast:
2	chr11:68278881..68280998-chr11:68281626..68283316,2	K562	blood:
3	chr11:68273387..68276350-chr11:68281401..68283476,2	K562	blood:
4	chr11:68235488..68237146-chr11:68281544..68283444,2	MCF-7	breast:
5	chr11:68277247..68280237-chr11:68281638..68283353,2	MCF-7	breast:
6	chr11:68233382..68234898-chr11:68282397..68284247,2	K562	blood:
7	chr11:68258324..68260734-chr11:68281376..68283618,2	K562	blood:

No data

Variant related genes	Relation type
PPP6R3	TF binding region
ENSG00000212093	Chromatin interaction
ENSG00000110075	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3431317	chr11:68282676-68411867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	esv3478641	chr11:68282679-68411856	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	esv3478652	chr11:68282679-68411856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv3425206	chr11:68282708-68411817	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	esv3511614	chr11:68282726-68411806	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	esv3511615	chr11:68282726-68411806	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
13	esv3348204	chr11:68282891-68411839	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68238600-68287800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:68256600-68287200	Weak transcription	NHEK	skin
3	chr11:68265200-68302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:68267200-68287800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:68267400-68287000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:68268600-68290800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:68268600-68303800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:68271000-68294600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:68271200-68287400	Weak transcription	Spleen	Spleen
10	chr11:68271200-68287600	Weak transcription	Colonic Mucosa	Colon
11	chr11:68271200-68289000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr11:68271600-68287200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:68271600-68287200	Weak transcription	Brain Germinal Matrix	brain
14	chr11:68272400-68287200	Weak transcription	Esophagus	oesophagus
15	chr11:68272400-68287800	Weak transcription	Aorta	Aorta
16	chr11:68272400-68289400	Weak transcription	NHLF	lung
17	chr11:68272400-68291000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:68272600-68284200	Weak transcription	A549	lung
19	chr11:68273800-68288600	Weak transcription	HSMMtube	muscle
20	chr11:68274400-68296000	Weak transcription	Stomach Mucosa	stomach
21	chr11:68276000-68287800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr11:68276000-68305600	Weak transcription	Fetal Brain Male	brain
23	chr11:68276200-68290200	Weak transcription	Fetal Brain Female	brain
24	chr11:68276600-68285000	Weak transcription	Brain Hippocampus Middle	brain
25	chr11:68276600-68286800	Weak transcription	NH-A	brain
26	chr11:68276600-68287000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:68276600-68287000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:68276600-68304000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr11:68276800-68284600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:68276800-68285800	Weak transcription	Brain Anterior Caudate	brain
31	chr11:68276800-68286400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr11:68276800-68287000	Weak transcription	Adipose Nuclei	Adipose
33	chr11:68276800-68288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:68276800-68290600	Weak transcription	Brain Angular Gyrus	brain
35	chr11:68277000-68283400	Weak transcription	Fetal Lung	lung
36	chr11:68277000-68283600	Weak transcription	Osteobl	bone
37	chr11:68277000-68287400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr11:68277200-68289000	Weak transcription	NHDF-Ad	bronchial
39	chr11:68277200-68289600	Weak transcription	Fetal Heart	heart
40	chr11:68277400-68292200	Weak transcription	Right Ventricle	heart
41	chr11:68277600-68336000	Strong transcription	Dnd41	blood
42	chr11:68278000-68287200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr11:68278200-68284200	Strong transcription	Hela-S3	cervix
44	chr11:68278200-68287200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr11:68278400-68287800	Weak transcription	HMEC	breast
46	chr11:68278600-68291200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:68279000-68283600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:68279000-68285200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr11:68279200-68284400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:68279600-68283800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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