Variant report

Variant	rs16918743
Chromosome Location	chr8:59730085-59730086
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	FOXA1	chr8:59729857-59730169	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59728412..59730132-chr8:59731645..59733988,2	K562	blood:

Variant related genes	Relation type
RNU4-50P	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10092016	1.00[CEU][hapmap]
rs10504276	1.00[CEU][hapmap]
rs11995430	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11998693	1.00[CEU][hapmap]
rs16924012	1.00[CEU][hapmap]
rs16924088	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs16924147	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs16924330	1.00[CEU][hapmap]
rs16924342	1.00[CEU][hapmap]
rs16924346	1.00[CEU][hapmap]
rs16924369	1.00[CEU][hapmap]
rs2166923	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs41468545	1.00[CEU][hapmap]
rs73249065	0.85[AMR][1000 genomes]
rs7821556	1.00[CEU][hapmap]
rs7844006	1.00[EUR][1000 genomes]
rs9643507	1.00[CEU][hapmap]

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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59714200-59731200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:59714400-59731800	Weak transcription	Right Atrium	heart
3	chr8:59714600-59746000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:59715000-59731200	Weak transcription	Pancreas	Pancrea
5	chr8:59715000-59735600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:59715000-59742400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr8:59715200-59757400	Weak transcription	Fetal Intestine Large	intestine
8	chr8:59720600-59736800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:59720600-59738200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr8:59720600-59754800	Weak transcription	Small Intestine	intestine
11	chr8:59720800-59739000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:59720800-59745200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr8:59720800-59762600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:59721000-59731200	Weak transcription	Fetal Kidney	kidney
15	chr8:59721000-59735000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:59721000-59739000	Weak transcription	NHLF	lung
17	chr8:59721000-59739200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:59721000-59745000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:59721400-59732400	Weak transcription	Colon Smooth Muscle	Colon
20	chr8:59721400-59745000	Weak transcription	Fetal Brain Male	brain
21	chr8:59721600-59736400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr8:59721600-59736800	Weak transcription	Brain Germinal Matrix	brain
23	chr8:59721600-59745400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr8:59722000-59737800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr8:59722200-59734000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:59722400-59757200	Strong transcription	Dnd41	blood
27	chr8:59724200-59731000	Weak transcription	Colonic Mucosa	Colon
28	chr8:59724200-59733000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:59724400-59731400	Strong transcription	Primary T cells from cord blood	blood
30	chr8:59724600-59738800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr8:59724800-59730200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:59724800-59732800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr8:59725400-59730200	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:59726600-59734800	Weak transcription	Esophagus	oesophagus
35	chr8:59727000-59745400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:59728200-59736200	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr8:59728200-59736400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:59728400-59731400	Weak transcription	Fetal Heart	heart
39	chr8:59728400-59736000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr8:59728400-59741600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:59728400-59741600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr8:59728600-59735400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr8:59729200-59731400	Enhancers	HUVEC	blood vessel
44	chr8:59729600-59736200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr8:59729600-59736200	Weak transcription	Fetal Intestine Small	intestine
46	chr8:59729600-59736200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:59729600-59736400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:59729600-59739000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:59729600-59740000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:59729600-59754800	Weak transcription	Gastric	stomach

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