Variant report

Variant	rs112507760
Chromosome Location	chr18:9612003-9612004
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	MXI1	chr18:9611932-9615928	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr18:9611977-9612956	SK-N-SH	brain:	n/a	chr18:9612399-9612417 chr18:9612400-9612416 chr18:9612401-9612422 chr18:9612404-9612412

No.	Distal block	Cell Line	Cell type
1	chr18:9598014..9601741-chr18:9607589..9612497,6	MCF-7	breast:
2	chr18:9575298..9576117-chr18:9611923..9612878,3	MCF-7	breast:
3	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:
4	chr18:9610247..9612763-chr18:9683592..9685519,2	K562	blood:

Variant related genes	Relation type
ENSG00000263627	TF binding region
ENSG00000154845	Chromatin interaction
ENSG00000168461	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv543644	chr18:9576145-9612516	Strong transcription Enhancers Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv1836290	chr18:9611497-9614851	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9551000-9612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:9588600-9612400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:9594200-9613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:9597400-9613200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr18:9598000-9612600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr18:9601800-9612200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr18:9604800-9612200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr18:9604800-9612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr18:9607200-9613400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr18:9608200-9613600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr18:9609000-9612200	Weak transcription	Fetal Kidney	kidney
13	chr18:9609000-9612400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr18:9609200-9612200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr18:9609400-9612400	Weak transcription	Aorta	Aorta
16	chr18:9609400-9612600	Weak transcription	Brain Angular Gyrus	brain
17	chr18:9609400-9612800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr18:9609400-9613600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr18:9609600-9612200	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr18:9609600-9612200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr18:9609600-9612200	Weak transcription	Brain Substantia Nigra	brain
22	chr18:9609600-9612200	Weak transcription	Left Ventricle	heart
23	chr18:9609600-9612200	Weak transcription	Small Intestine	intestine
24	chr18:9609600-9612200	Strong transcription	HSMM	muscle
25	chr18:9609600-9612400	Weak transcription	Ovary	ovary
26	chr18:9609600-9612400	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr18:9609600-9612400	Weak transcription	Right Atrium	heart
28	chr18:9609600-9612400	Weak transcription	Right Ventricle	heart
29	chr18:9609600-9612600	Weak transcription	Primary T cells from cord blood	blood
30	chr18:9609600-9613000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr18:9609600-9613200	Weak transcription	Thymus	Thymus
32	chr18:9609600-9613400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr18:9609800-9612200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr18:9609800-9612200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr18:9609800-9613000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr18:9610000-9612400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr18:9610200-9612200	Genic enhancers	K562	blood
38	chr18:9610400-9612200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr18:9610400-9612200	Genic enhancers	A549	lung
40	chr18:9610400-9612400	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr18:9610800-9612400	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr18:9610800-9612400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr18:9611000-9612200	Strong transcription	Primary B cells from cord blood	blood
44	chr18:9611000-9612200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr18:9611000-9612200	Strong transcription	Brain Cingulate Gyrus	brain
46	chr18:9611000-9612200	Enhancers	GM12878-XiMat	blood
47	chr18:9611000-9612400	Genic enhancers	Muscle Satellite Cultured Cells	--
48	chr18:9611200-9612200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr18:9611200-9612200	Enhancers	Brain Germinal Matrix	brain
50	chr18:9611200-9612200	Weak transcription	Stomach Mucosa	stomach

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