Variant report

Variant	rs12511080
Chromosome Location	chr4:186759499-186759500
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:186755553..186758138-chr4:186759199..186761217,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73019803	0.95[EUR][1000 genomes]
rs7674180	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186742400-186759800	Weak transcription	Fetal Brain Male	brain
2	chr4:186750200-186761000	Weak transcription	Aorta	Aorta
3	chr4:186752600-186759600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr4:186752800-186760000	Weak transcription	Fetal Intestine Large	intestine
5	chr4:186754600-186759600	Weak transcription	Osteobl	bone
6	chr4:186754600-186760000	Enhancers	Fetal Heart	heart
7	chr4:186756000-186761800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:186756000-186762400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:186756000-186763000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr4:186756200-186759800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:186756600-186761600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:186756800-186759800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:186756800-186759800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:186756800-186760000	Enhancers	A549	lung
15	chr4:186756800-186762200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:186757000-186762400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr4:186757400-186759800	Enhancers	Rectal Smooth Muscle	rectum
18	chr4:186757400-186759800	Enhancers	HSMMtube	muscle
19	chr4:186757400-186761600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:186757400-186762400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr4:186757400-186762600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr4:186757600-186762000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr4:186757800-186762600	Enhancers	Colon Smooth Muscle	Colon
24	chr4:186758000-186759800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:186758000-186759800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr4:186758000-186762000	Enhancers	HUVEC	blood vessel
27	chr4:186758200-186759600	Weak transcription	HSMM	muscle
28	chr4:186758200-186760000	Enhancers	HepG2	liver
29	chr4:186758200-186760800	Enhancers	Fetal Intestine Small	intestine
30	chr4:186758400-186762400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:186758600-186759800	Enhancers	Adipose Nuclei	Adipose
32	chr4:186758800-186759800	Weak transcription	Fetal Kidney	kidney
33	chr4:186759000-186760000	Enhancers	Stomach Smooth Muscle	stomach
34	chr4:186759000-186760000	Enhancers	Hela-S3	cervix
35	chr4:186759000-186760400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr4:186759000-186760600	Enhancers	NHDF-Ad	bronchial
37	chr4:186759000-186761200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:186759000-186761600	Enhancers	NH-A	brain
39	chr4:186759000-186762200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:186759000-186762400	Enhancers	Placenta	Placenta
41	chr4:186759200-186759600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr4:186759200-186759600	Enhancers	Lung	lung
43	chr4:186759200-186759800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:186759200-186760000	Enhancers	Brain Anterior Caudate	brain
45	chr4:186759200-186760000	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr4:186759200-186760200	Enhancers	Gastric	stomach
47	chr4:186759200-186760400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr4:186759200-186760600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:186759200-186760600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr4:186759200-186760800	Enhancers	Fetal Muscle Trunk	muscle

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