Variant report

Variant	rs29166
Chromosome Location	chr18:9930749-9930750
allele	C/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	TBL1XR1	chr18:9930361-9930783	K562	blood:	n/a	n/a
2	JUN	chr18:9930419-9930821	K562	blood:	n/a	n/a
3	ZNF384	chr18:9930578-9930778	K562	blood:	n/a	n/a
4	POLR2A	chr18:9930289-9931630	K562	blood:	n/a	n/a
5	POLR2A	chr18:9929429-9931316	K562	blood:	n/a	n/a
6	IRF1	chr18:9930314-9930759	K562	blood:	n/a	chr18:9930732-9930743 chr18:9930403-9930420

No.	Distal block	Cell Line	Cell type
1	chr18:9869885..9871573-chr18:9928479..9930927,2	K562	blood:
2	chr18:9836686..9839180-chr18:9928720..9931249,2	K562	blood:
3	chr18:9803187..9805652-chr18:9928374..9931029,2	K562	blood:
4	chr18:9922365..9924336-chr18:9928568..9931025,2	MCF-7	breast:

Variant related genes	Relation type
VAPA	TF binding region
ENSG00000223138	Chromatin interaction

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

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

rs_ID	r²[population]
rs491195	1.00[AMR][1000 genomes]
rs57222606	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv576464	chr18:9913906-9936185	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9915400-9946600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:9915800-9931600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr18:9916200-9931000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr18:9916600-9932800	Weak transcription	Fetal Stomach	stomach
5	chr18:9917000-9936000	Weak transcription	Brain Germinal Matrix	brain
6	chr18:9917800-9936400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:9918800-9936000	Weak transcription	Fetal Brain Male	brain
8	chr18:9918800-9936600	Weak transcription	HSMMtube	muscle
9	chr18:9919200-9932400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr18:9919200-9932400	Weak transcription	Placenta	Placenta
11	chr18:9921000-9931600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr18:9921400-9937400	Weak transcription	Fetal Brain Female	brain
13	chr18:9922800-9936400	Weak transcription	Spleen	Spleen
14	chr18:9923800-9931400	Weak transcription	Dnd41	blood
15	chr18:9924200-9930800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr18:9924800-9932000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr18:9924800-9953200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr18:9926400-9932000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:9926600-9932200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr18:9926600-9933200	Weak transcription	NH-A	brain
21	chr18:9926800-9931800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr18:9926800-9932000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr18:9926800-9932400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr18:9926800-9932800	Weak transcription	Aorta	Aorta
25	chr18:9926800-9933200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr18:9926800-9933400	Weak transcription	Colonic Mucosa	Colon
27	chr18:9926800-9936400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:9926800-9936400	Weak transcription	Lung	lung
29	chr18:9926800-9939600	Weak transcription	Gastric	stomach
30	chr18:9926800-9942600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr18:9926800-9944800	Weak transcription	Right Atrium	heart
32	chr18:9926800-9950600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr18:9927000-9933200	Weak transcription	Pancreas	Pancrea
34	chr18:9927000-9936400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr18:9927000-9936400	Weak transcription	NHLF	lung
36	chr18:9927000-9957800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr18:9927200-9931800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr18:9927200-9932200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr18:9927400-9931600	Weak transcription	Fetal Lung	lung
40	chr18:9927400-9932200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr18:9927400-9932200	Weak transcription	NHDF-Ad	bronchial
42	chr18:9927400-9932600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr18:9927800-9931800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr18:9927800-9931800	Weak transcription	Osteobl	bone
45	chr18:9927800-9932400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr18:9927800-9932600	Weak transcription	Fetal Muscle Leg	muscle
47	chr18:9927800-9932800	Weak transcription	Psoas Muscle	Psoas
48	chr18:9928000-9931800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr18:9928000-9933400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr18:9928000-9938000	Weak transcription	Small Intestine	intestine

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