Variant report

Variant	rs60246007
Chromosome Location	chr18:9834950-9834951
allele	C/T
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	ZKSCAN1	chr18:9834931-9835053	Hela-S3	cervix:	n/a	n/a
2	FOXA1	chr18:9834885-9835098	T-47D	breast:	n/a	n/a
3	FOXA1	chr18:9834814-9835201	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:9831165..9832828-chr18:9833796..9836130,2	MCF-7	breast:
2	chr18:9833804..9836149-chr18:9912449..9915567,3	K562	blood:

Variant related genes	Relation type
RN7SL862P	TF binding region
ENSG00000101558	Chromatin interaction
ENSG00000272799	Chromatin interaction

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	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv833586	chr18:9783830-9971693	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription 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	33 gene(s)	inside rSNPs	diseases
4	esv2761989	chr18:9834599-9837639	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9825400-9849800	Weak transcription	Gastric	stomach
2	chr18:9825800-9835400	Weak transcription	Brain Angular Gyrus	brain
3	chr18:9826000-9835200	Weak transcription	Brain Anterior Caudate	brain
4	chr18:9827800-9837800	Weak transcription	Primary B cells from peripheral blood	blood
5	chr18:9828400-9835600	Weak transcription	Fetal Heart	heart
6	chr18:9828400-9838400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr18:9828400-9846000	Weak transcription	Pancreas	Pancrea
8	chr18:9828600-9835000	Weak transcription	Fetal Lung	lung
9	chr18:9828600-9838000	Weak transcription	HSMMtube	muscle
10	chr18:9829000-9838000	Weak transcription	HSMM	muscle
11	chr18:9829000-9841600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr18:9829000-9845200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr18:9829000-9848200	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr18:9829400-9838000	Weak transcription	NH-A	brain
15	chr18:9829600-9835000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr18:9829600-9838800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr18:9829600-9846600	Weak transcription	NHDF-Ad	bronchial
18	chr18:9829800-9835200	Weak transcription	HMEC	breast
19	chr18:9830400-9839400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr18:9831200-9847200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr18:9831400-9835600	Strong transcription	Hela-S3	cervix
22	chr18:9831600-9835000	Weak transcription	K562	blood
23	chr18:9831600-9852400	Weak transcription	A549	lung
24	chr18:9831800-9836200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr18:9831800-9845200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr18:9832000-9836600	Weak transcription	Left Ventricle	heart
27	chr18:9832000-9838000	Weak transcription	Aorta	Aorta
28	chr18:9832200-9835000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr18:9832200-9835000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr18:9832200-9835400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr18:9832200-9835400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr18:9832200-9836600	Weak transcription	Right Atrium	heart
33	chr18:9832400-9835400	Weak transcription	Brain Hippocampus Middle	brain
34	chr18:9832400-9846600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr18:9832600-9835000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr18:9832600-9835000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr18:9832600-9835200	Weak transcription	Right Ventricle	heart
38	chr18:9832600-9835400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr18:9832800-9836600	Weak transcription	Lung	lung
40	chr18:9832800-9837800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr18:9832800-9845000	Weak transcription	Osteobl	bone
42	chr18:9832800-9865000	Weak transcription	Spleen	Spleen
43	chr18:9833000-9835000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr18:9833000-9846400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr18:9833200-9836000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr18:9833200-9838200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr18:9833200-9842200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:9833400-9835000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:9833400-9835000	Weak transcription	Fetal Intestine Small	intestine
50	chr18:9833400-9835000	Weak transcription	Fetal Stomach	stomach

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