Variant report

Variant	rs7565996
Chromosome Location	chr2:86113282-86113283
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	MXI1	chr2:86112995-86117346	IMR90	lung:	n/a	n/a
2	MAX	chr2:86112960-86118329	A549	lung:	n/a	chr2:86116152-86116161 chr2:86115924-86115934

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	chr2:86095415..86096944-chr2:86111486..86113400,2	MCF-7	breast:
5	chr2:86096615..86099276-chr2:86111302..86113813,2	MCF-7	breast:
6	chr2:86112022..86114027-chr2:86114366..86116766,2	MCF-7	breast:
7	chr2:86112101..86114147-chr2:86124119..86126980,2	K562	blood:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12714154	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12994053	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13024999	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1401383	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1401385	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2010859	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2083170	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2366950	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28364795	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4313976	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4331504	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4832213	0.85[AFR][1000 genomes]
rs4832215	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4832219	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4832220	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4832221	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6707472	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6726662	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs893445	0.84[EUR][1000 genomes];0.82[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	chr2:86104800-86113400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:86106400-86113800	Weak transcription	Pancreas	Pancrea
5	chr2:86106400-86113800	Weak transcription	Right Atrium	heart
6	chr2:86106400-86115200	Weak transcription	Gastric	stomach
7	chr2:86107000-86113400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:86107800-86113600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:86109600-86113400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:86109600-86113800	Weak transcription	Fetal Stomach	stomach
11	chr2:86111000-86113800	Enhancers	Brain Substantia Nigra	brain
12	chr2:86111000-86114000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:86111000-86114000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr2:86111000-86114600	Enhancers	Primary B cells from peripheral blood	blood
15	chr2:86111200-86113800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:86111200-86113800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:86111400-86113800	Weak transcription	Brain Germinal Matrix	brain
18	chr2:86111400-86114000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr2:86111600-86113400	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr2:86111600-86113600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:86111600-86113800	Enhancers	Brain Angular Gyrus	brain
22	chr2:86111600-86113800	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr2:86111600-86114000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:86111600-86114000	Enhancers	NHDF-Ad	bronchial
25	chr2:86111600-86114200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:86111800-86113600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr2:86111800-86113800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:86111800-86113800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:86111800-86113800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:86111800-86113800	Enhancers	Fetal Muscle Leg	muscle
31	chr2:86111800-86114000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:86111800-86114000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr2:86111800-86114000	Enhancers	K562	blood
34	chr2:86111800-86114000	Enhancers	Osteobl	bone
35	chr2:86112000-86113800	Enhancers	Adipose Nuclei	Adipose
36	chr2:86112000-86114600	Enhancers	Primary hematopoietic stem cells	blood
37	chr2:86112000-86114600	Enhancers	Stomach Mucosa	stomach
38	chr2:86112200-86113600	Enhancers	Thymus	Thymus
39	chr2:86112200-86114400	Genic enhancers	Primary B cells from cord blood	blood
40	chr2:86112200-86114600	Enhancers	Primary T cells fromperipheralblood	blood
41	chr2:86112200-86114600	Enhancers	Liver	Liver
42	chr2:86112200-86114600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:86112400-86113400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:86112400-86113400	Weak transcription	HSMMtube	muscle
45	chr2:86112400-86113600	Enhancers	NH-A	brain
46	chr2:86112400-86113800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:86112400-86113800	Enhancers	Fetal Muscle Trunk	muscle
48	chr2:86112400-86113800	Enhancers	Lung	lung
49	chr2:86112400-86113800	Enhancers	HMEC	breast
50	chr2:86112400-86114000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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