Variant report

Variant	rs4940086
Chromosome Location	chr18:45446307-45446308
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:45419691..45422174-chr18:45446129..45447715,2	MCF-7	breast:
2	chr18:45420597..45422591-chr18:45444002..45446308,2	MCF-7	breast:
3	chr18:45429095..45432024-chr18:45444733..45448383,3	MCF-7	breast:
4	chr18:45440670..45442541-chr18:45446243..45448520,2	K562	blood:
5	chr18:45444480..45447818-chr18:45450638..45453118,3	K562	blood:
6	chr18:45445551..45451271-chr18:45453158..45456977,7	K562	blood:

Variant related genes	Relation type
ENSG00000175387	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12607804	0.81[AMR][1000 genomes]
rs62088121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72912362	0.82[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909614	chr18:45419421-45478490	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:45423200-45451400	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr18:45433200-45455000	Weak transcription	Fetal Stomach	stomach
3	chr18:45433200-45455400	Weak transcription	Fetal Brain Male	brain
4	chr18:45433400-45446400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr18:45433400-45452200	Weak transcription	Fetal Lung	lung
6	chr18:45434000-45446600	Weak transcription	Primary B cells from cord blood	blood
7	chr18:45434000-45454600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr18:45435400-45452400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:45435600-45455800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr18:45438600-45454600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr18:45438800-45453400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr18:45439000-45452200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr18:45439000-45452800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr18:45439000-45452800	Weak transcription	Aorta	Aorta
15	chr18:45439000-45456200	Weak transcription	Esophagus	oesophagus
16	chr18:45439000-45456200	Weak transcription	Spleen	Spleen
17	chr18:45439200-45453000	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr18:45439200-45453400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr18:45439400-45447200	Weak transcription	Primary hematopoietic stem cells	blood
20	chr18:45439600-45455400	Weak transcription	Fetal Muscle Leg	muscle
21	chr18:45439800-45449600	Weak transcription	Right Ventricle	heart
22	chr18:45439800-45452800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:45439800-45454600	Weak transcription	Fetal Intestine Large	intestine
24	chr18:45439800-45456200	Weak transcription	Pancreas	Pancrea
25	chr18:45440000-45452400	Weak transcription	Fetal Intestine Small	intestine
26	chr18:45440600-45447800	Weak transcription	Brain Hippocampus Middle	brain
27	chr18:45440600-45452400	Weak transcription	Adipose Nuclei	Adipose
28	chr18:45440600-45452400	Weak transcription	Brain Anterior Caudate	brain
29	chr18:45440800-45452400	Weak transcription	Brain Cingulate Gyrus	brain
30	chr18:45441200-45453000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr18:45441400-45446400	Genic enhancers	Hela-S3	cervix
32	chr18:45442000-45454800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr18:45442200-45449600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr18:45442400-45449600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr18:45442400-45452800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:45442400-45453400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr18:45442400-45453600	Weak transcription	NH-A	brain
38	chr18:45442400-45455000	Weak transcription	HSMM	muscle
39	chr18:45442600-45451400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr18:45442600-45454600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr18:45442800-45454400	Weak transcription	NHDF-Ad	bronchial
42	chr18:45443000-45456000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr18:45443200-45447400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr18:45443600-45446400	Weak transcription	Left Ventricle	heart
45	chr18:45443600-45448400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr18:45443600-45455000	Weak transcription	Osteobl	bone
47	chr18:45443800-45446600	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr18:45443800-45449000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr18:45444000-45447000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr18:45444000-45448400	Enhancers	Primary T helper naive cells from peripheral blood	blood

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