Variant report

Variant	rs7949447
Chromosome Location	chr11:63430817-63430818
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:63426722..63428265-chr11:63429483..63431939,2	K562	blood:
2	chr11:63428788..63435912-chr11:63436181..63441265,9	MCF-7	breast:
3	chr11:63428927..63432023-chr11:63433966..63440165,8	K562	blood:
4	chr11:63429933..63433001-chr11:63436097..63439053,5	K562	blood:

Variant related genes	Relation type
ENSG00000184743	Chromatin interaction

Extended variants
information (count: 107 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10501394	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231535	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231543	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11551942	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11551944	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820129	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1186941	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1211688	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12274980	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158453	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17656941	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1789219	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2509744	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959876	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959880	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2959881	0.88[EUR][1000 genomes]
rs2959886	0.86[EUR][1000 genomes]
rs3016865	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34109368	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35345497	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35754698	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476034	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs476691	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs482915	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484619	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491231	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500726	0.91[EUR][1000 genomes]
rs500991	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs511819	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs515645	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517700	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518490	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs518692	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs521464	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523093	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523809	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534505	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534876	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539306	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541809	0.97[EUR][1000 genomes]
rs550629	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs551466	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs557882	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs559405	0.94[EUR][1000 genomes]
rs560938	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs562549	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566813	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs567756	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568769	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568790	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs580695	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588523	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928162	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928163	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928165	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928166	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928167	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928168	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928195	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928196	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928197	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928202	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928203	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928204	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928205	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928206	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928208	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928209	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928211	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928212	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928214	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928234	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928236	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928237	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928238	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928239	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928241	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928243	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928244	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928245	0.87[EUR][1000 genomes]
rs61928246	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928247	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61928248	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61929725	0.81[EUR][1000 genomes]
rs61929728	0.81[EUR][1000 genomes]
rs61929731	0.91[EUR][1000 genomes]
rs6591821	0.89[EUR][1000 genomes]
rs6591822	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106670	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7111395	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117206	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119961	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7127454	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128040	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128970	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7482863	0.82[EUR][1000 genomes]
rs7928900	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7931908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932117	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939940	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943981	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944003	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944094	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945972	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7949389	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][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	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63399000-63434000	Weak transcription	Small Intestine	intestine
2	chr11:63399200-63433800	Weak transcription	Fetal Heart	heart
3	chr11:63399800-63437800	Weak transcription	Fetal Brain Female	brain
4	chr11:63400400-63437600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr11:63400600-63431000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr11:63403400-63431000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:63410800-63435000	Weak transcription	Stomach Mucosa	stomach
8	chr11:63411000-63435200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr11:63411000-63437800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr11:63411200-63437000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:63414600-63435600	Weak transcription	Thymus	Thymus
12	chr11:63414600-63437400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr11:63418600-63435400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr11:63418600-63435400	Weak transcription	Colonic Mucosa	Colon
15	chr11:63418600-63437600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:63418600-63437600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:63418800-63435600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:63419200-63431000	Weak transcription	Brain Anterior Caudate	brain
19	chr11:63419200-63431200	Weak transcription	Brain Substantia Nigra	brain
20	chr11:63419200-63434600	Weak transcription	Gastric	stomach
21	chr11:63419200-63435400	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr11:63419200-63437200	Weak transcription	Fetal Lung	lung
23	chr11:63420400-63437600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:63420600-63431400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:63420600-63437400	Weak transcription	Brain Germinal Matrix	brain
26	chr11:63421600-63431000	Weak transcription	NH-A	brain
27	chr11:63421600-63436800	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr11:63423000-63435000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr11:63423200-63435000	Weak transcription	Fetal Intestine Large	intestine
30	chr11:63423400-63438000	Weak transcription	Fetal Thymus	thymus
31	chr11:63423600-63435200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:63424000-63431000	Weak transcription	HUVEC	blood vessel
33	chr11:63425000-63431000	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:63425000-63431200	Weak transcription	K562	blood
35	chr11:63425000-63431400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:63425000-63431400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:63425000-63433400	Weak transcription	Esophagus	oesophagus
38	chr11:63425000-63435800	Weak transcription	Primary B cells from cord blood	blood
39	chr11:63425000-63437200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr11:63425200-63437600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr11:63425600-63437800	Weak transcription	Fetal Intestine Small	intestine
42	chr11:63426200-63435400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr11:63426200-63437600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:63426200-63437600	Weak transcription	Fetal Kidney	kidney
45	chr11:63426400-63431000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:63426400-63435200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:63426400-63435400	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr11:63426400-63435400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:63426400-63435400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr11:63426400-63435400	Weak transcription	Liver	Liver

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