Variant report

Variant	rs377267143
Chromosome Location	chr5:41844780-41844781
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:41844759-41845448	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:41843869..41846135-chr5:41851882..41853656,2	K562	blood:
2	chr5:41843846..41845908-chr5:42054612..42056725,2	K562	blood:

Variant related genes	Relation type
OXCT1	TF binding region

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830271	chr5:41716527-41895710	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS 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 target site	45 gene(s)	inside rSNPs	diseases
2	esv2762518	chr5:41780210-41935113	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	108 gene(s)	inside rSNPs	diseases
3	nsv830272	chr5:41833365-41986167	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
4	nsv4811	chr5:41844522-41887353	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41801000-41849200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr5:41801200-41849200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr5:41801200-41849200	Weak transcription	Fetal Brain Male	brain
4	chr5:41818400-41852000	Weak transcription	Small Intestine	intestine
5	chr5:41819200-41852800	Weak transcription	Pancreas	Pancrea
6	chr5:41822600-41849200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:41824600-41859400	Weak transcription	Spleen	Spleen
8	chr5:41825800-41849200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr5:41827800-41849800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:41828600-41849200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr5:41828800-41849000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:41829400-41851000	Weak transcription	Fetal Intestine Small	intestine
13	chr5:41830800-41849200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr5:41830800-41849800	Weak transcription	Gastric	stomach
15	chr5:41831200-41849200	Weak transcription	Brain Germinal Matrix	brain
16	chr5:41831200-41854400	Weak transcription	Colonic Mucosa	Colon
17	chr5:41831400-41849200	Weak transcription	Placenta	Placenta
18	chr5:41832200-41849200	Weak transcription	Fetal Kidney	kidney
19	chr5:41832800-41849200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:41832800-41850000	Weak transcription	Esophagus	oesophagus
21	chr5:41832800-41869200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:41833400-41849200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr5:41834000-41849200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:41834600-41849200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr5:41835800-41845600	Strong transcription	Dnd41	blood
26	chr5:41836000-41857200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr5:41836200-41849200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:41836400-41849200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr5:41836400-41849200	Weak transcription	Brain Anterior Caudate	brain
30	chr5:41836400-41849200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:41836400-41849200	Weak transcription	Brain Substantia Nigra	brain
32	chr5:41836400-41849200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:41836400-41849200	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr5:41836400-41849400	Weak transcription	Colon Smooth Muscle	Colon
35	chr5:41836600-41849000	Weak transcription	NHDF-Ad	bronchial
36	chr5:41836600-41849200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:41836600-41849200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:41836600-41849200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr5:41836600-41849200	Weak transcription	Ovary	ovary
40	chr5:41836600-41849200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr5:41836600-41849200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:41836600-41849200	Weak transcription	Osteobl	bone
43	chr5:41836600-41849400	Weak transcription	HSMM	muscle
44	chr5:41836600-41863800	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr5:41837000-41849200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr5:41837000-41849200	Weak transcription	Fetal Heart	heart
47	chr5:41837000-41849200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr5:41837000-41850000	Weak transcription	Brain Angular Gyrus	brain
49	chr5:41837200-41858600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr5:41837600-41849200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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