Variant report

Variant	rs528800
Chromosome Location	chr11:74650328-74650329
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:74649671-74653927	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:74647283..74650920-chr11:74658326..74663032,5	K562	blood:
2	chr11:74648660..74650621-chr11:74650669..74654013,3	MCF-7	breast:
3	chr11:74646789..74652263-chr11:74653149..74657657,8	K562	blood:
4	chr11:74642923..74645207-chr11:74648727..74651390,2	MCF-7	breast:
5	chr11:74648814..74655241-chr11:74658566..74662539,10	MCF-7	breast:
6	chr11:74649695..74652102-chr11:74676091..74677975,2	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR2AT4-2	chr11:74650199-74650615	expReg_chr11_7568_-

No data

Variant related genes	Relation type
XRRA1	TF binding region
ENSG00000118363	Chromatin interaction
ENSG00000265344	Chromatin interaction
ENSG00000166435	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11236255	0.87[ASN][1000 genomes]
rs1125609	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs113187	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11827626	0.86[ASN][1000 genomes]
rs12223829	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1282668	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1282675	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1282677	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1315265	0.83[ASN][1000 genomes]
rs1315299	0.92[ASN][1000 genomes]
rs1821352	0.86[ASN][1000 genomes]
rs1866562	0.86[ASN][1000 genomes]
rs2510692	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs474445	0.86[ASN][1000 genomes]
rs483271	0.84[ASN][1000 genomes]
rs487207	0.86[ASN][1000 genomes]
rs487226	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs491826	0.91[ASN][1000 genomes]
rs493889	0.84[ASN][1000 genomes]
rs496698	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs500827	0.87[ASN][1000 genomes]
rs503855	0.86[ASN][1000 genomes]
rs503994	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs512782	0.83[ASN][1000 genomes]
rs514534	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs516287	0.84[ASN][1000 genomes]
rs517666	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs534595	0.86[ASN][1000 genomes]
rs535705	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs536823	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs544891	0.88[ASN][1000 genomes]
rs559211	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs562581	0.80[ASN][1000 genomes]
rs571250	0.80[EUR][1000 genomes]
rs571437	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs578477	0.84[ASN][1000 genomes]
rs579581	0.84[ASN][1000 genomes]
rs580541	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs592045	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs605954	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs633824	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs650130	0.91[ASN][1000 genomes]
rs655488	0.88[ASN][1000 genomes]
rs662062	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs670246	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs673731	0.88[ASN][1000 genomes]
rs693212	0.87[ASN][1000 genomes]
rs7121530	0.87[ASN][1000 genomes]

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	nsv832210	chr11:74562782-74732133	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74616400-74656200	Weak transcription	Stomach Mucosa	stomach
2	chr11:74618000-74659600	Weak transcription	Esophagus	oesophagus
3	chr11:74618400-74653800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:74620400-74659600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:74627800-74659200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr11:74628200-74659600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:74630800-74659000	Weak transcription	Fetal Brain Male	brain
8	chr11:74631600-74659000	Weak transcription	Hela-S3	cervix
9	chr11:74632200-74659600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:74633000-74659400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:74636000-74656200	Strong transcription	Fetal Intestine Large	intestine
12	chr11:74636000-74658200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:74637400-74656400	Strong transcription	Duodenum Mucosa	Duodenum
14	chr11:74637800-74655400	Strong transcription	Fetal Stomach	stomach
15	chr11:74641600-74659000	Weak transcription	A549	lung
16	chr11:74642000-74659400	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:74642000-74659600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr11:74642400-74656000	Strong transcription	Primary T helper cells PMA-I stimulated	--
19	chr11:74642600-74656200	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr11:74642800-74655600	Strong transcription	Placenta	Placenta
21	chr11:74643200-74652200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:74643200-74653600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr11:74643200-74653800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:74643400-74652800	Strong transcription	Dnd41	blood
25	chr11:74643400-74655200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:74644200-74659400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:74646600-74650600	Strong transcription	Fetal Intestine Small	intestine
28	chr11:74646600-74653800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr11:74646600-74659200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr11:74646800-74651600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr11:74647400-74650800	Weak transcription	Brain Angular Gyrus	brain
32	chr11:74647400-74651600	Weak transcription	Gastric	stomach
33	chr11:74647400-74651600	Weak transcription	Psoas Muscle	Psoas
34	chr11:74647600-74659000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr11:74647800-74651000	Weak transcription	Fetal Lung	lung
36	chr11:74647800-74651400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr11:74648000-74650400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr11:74648000-74650600	Weak transcription	Brain Anterior Caudate	brain
39	chr11:74648000-74651000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:74648000-74651000	Weak transcription	Aorta	Aorta
41	chr11:74648000-74651400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr11:74648000-74651600	Weak transcription	Lung	lung
43	chr11:74648000-74651600	Weak transcription	Thymus	Thymus
44	chr11:74648000-74653800	Weak transcription	Liver	Liver
45	chr11:74648000-74659000	Weak transcription	Colon Smooth Muscle	Colon
46	chr11:74648000-74659200	Weak transcription	Brain Substantia Nigra	brain
47	chr11:74648000-74659400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr11:74648000-74659400	Weak transcription	Fetal Brain Female	brain
49	chr11:74648000-74659600	Weak transcription	Pancreas	Pancrea
50	chr11:74648000-74659600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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