Variant report

Variant	rs1518991
Chromosome Location	chr2:86113514-86113515
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr2:86112995-86117346	IMR90	lung:	n/a	n/a
2	MAX	chr2:86113503-86115849	A549	lung:	n/a	n/a
3	EP300	chr2:86113468-86114298	SK-N-SH	brain:	n/a	n/a
4	MAX	chr2:86113505-86114263	SK-N-SH	brain:	n/a	n/a
5	WRNIP1	chr2:86113446-86115563	GM12878	blood:	n/a	n/a
6	MAX	chr2:86112960-86118329	A549	lung:	n/a	chr2:86116152-86116161 chr2:86115924-86115934
7	TCF12	chr2:86113441-86114364	SK-N-SH	brain:	n/a	n/a
8	MXI1	chr2:86113402-86114290	SK-N-SH	brain:	n/a	n/a
9	ZNF263	chr2:86113413-86115552	HEK293-T-REx	kidney:	n/a	n/a
10	RAD21	chr2:86113446-86114251	IMR90	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:86110287..86113601-chr2:86124119..86126879,3	K562	blood:
2	chr2:86112427..86114541-chr8:128877788..128879604,2	MCF-7	breast:
3	chr2:86101410..86103252-chr2:86110793..86113743,3	K562	blood:
4	chr2:86096615..86099276-chr2:86111302..86113813,2	MCF-7	breast:
5	chr2:86112022..86114027-chr2:86114366..86116766,2	MCF-7	breast:
6	chr2:86112101..86114147-chr2:86124119..86126980,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232504	TF binding region
ENSG00000115525	Chromatin interaction
ENSG00000232504	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1135603	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13008291	0.90[ASN][1000 genomes]
rs1401384	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1518983	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1543972	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1878898	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1878899	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1878904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2577768	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2577769	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2577770	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2577771	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2577772	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2577774	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2577775	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2577777	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2577778	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2577779	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2577780	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2577786	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2679710	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679711	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2679712	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679713	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679714	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2679715	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2679716	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2679717	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679718	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2679719	0.98[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2679720	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2679721	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2679725	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28364794	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2918014	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2918015	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2918016	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2945823	0.86[EUR][1000 genomes]
rs2945825	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2945826	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35153287	0.85[EUR][1000 genomes]
rs4832216	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4832217	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4832218	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62150576	0.91[ASN][1000 genomes]
rs6734115	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6735629	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6747179	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6747294	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs764471	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs954176	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs959313	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86075400-86114000	Weak transcription	Aorta	Aorta
2	chr2:86102800-86115200	Weak transcription	Small Intestine	intestine
3	chr2:86106400-86113800	Weak transcription	Pancreas	Pancrea
4	chr2:86106400-86113800	Weak transcription	Right Atrium	heart
5	chr2:86106400-86115200	Weak transcription	Gastric	stomach
6	chr2:86107800-86113600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:86109600-86113800	Weak transcription	Fetal Stomach	stomach
8	chr2:86111000-86113800	Enhancers	Brain Substantia Nigra	brain
9	chr2:86111000-86114000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr2:86111000-86114000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr2:86111000-86114600	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:86111200-86113800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:86111200-86113800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:86111400-86113800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:86111400-86114000	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr2:86111600-86113600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:86111600-86113800	Enhancers	Brain Angular Gyrus	brain
18	chr2:86111600-86113800	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:86111600-86114000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:86111600-86114000	Enhancers	NHDF-Ad	bronchial
21	chr2:86111600-86114200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:86111800-86113600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:86111800-86113800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:86111800-86113800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:86111800-86113800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:86111800-86113800	Enhancers	Fetal Muscle Leg	muscle
27	chr2:86111800-86114000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:86111800-86114000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:86111800-86114000	Enhancers	K562	blood
30	chr2:86111800-86114000	Enhancers	Osteobl	bone
31	chr2:86112000-86113800	Enhancers	Adipose Nuclei	Adipose
32	chr2:86112000-86114600	Enhancers	Primary hematopoietic stem cells	blood
33	chr2:86112000-86114600	Enhancers	Stomach Mucosa	stomach
34	chr2:86112200-86113600	Enhancers	Thymus	Thymus
35	chr2:86112200-86114400	Genic enhancers	Primary B cells from cord blood	blood
36	chr2:86112200-86114600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr2:86112200-86114600	Enhancers	Liver	Liver
38	chr2:86112200-86114600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:86112400-86113600	Enhancers	NH-A	brain
40	chr2:86112400-86113800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr2:86112400-86113800	Enhancers	Fetal Muscle Trunk	muscle
42	chr2:86112400-86113800	Enhancers	Lung	lung
43	chr2:86112400-86113800	Enhancers	HMEC	breast
44	chr2:86112400-86114000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:86112400-86114200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:86112400-86114200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:86112400-86114400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:86112400-86114600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr2:86112400-86115000	Enhancers	Spleen	Spleen
50	chr2:86112600-86113600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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