Variant report

Variant	rs13417047
Chromosome Location	chr2:20242436-20242437
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20213361..20215470-chr2:20241959..20243915,2	MCF-7	breast:
2	chr2:20235298..20239645-chr2:20240802..20243443,5	K562	blood:
3	chr2:20233000..20234646-chr2:20240342..20243953,3	MCF-7	breast:
4	chr2:20239886..20242737-chr2:20245046..20246984,2	K562	blood:
5	chr2:20235025..20246171-chr2:20248104..20254249,17	MCF-7	breast:
6	chr2:20235625..20237177-chr2:20241948..20244789,2	MCF-7	breast:
7	chr2:20236723..20239351-chr2:20240992..20243680,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223734	Chromatin interaction
ENSG00000068697	Chromatin interaction

rs_ID	r²[population]
rs10174955	1.00[AMR][1000 genomes]
rs10180898	1.00[AMR][1000 genomes]
rs10191451	1.00[AMR][1000 genomes]
rs10203575	1.00[AMR][1000 genomes]
rs13386531	1.00[AMR][1000 genomes]
rs13396075	1.00[AMR][1000 genomes]
rs13402951	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412192	1.00[AMR][1000 genomes]
rs13415422	1.00[AMR][1000 genomes]
rs13422363	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3937746	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4602183	1.00[AMR][1000 genomes]
rs987620	1.00[AMR][1000 genomes]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20221400-20249800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:20228200-20242600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:20230600-20242600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:20230600-20248000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:20234800-20248200	Weak transcription	Psoas Muscle	Psoas
6	chr2:20235000-20248000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:20235400-20247400	Weak transcription	Fetal Brain Male	brain
8	chr2:20236400-20242800	Weak transcription	Right Atrium	heart
9	chr2:20236600-20245000	Strong transcription	Primary B cells from cord blood	blood
10	chr2:20236600-20248000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:20236800-20246600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:20237800-20249000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:20238000-20248200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:20238600-20243600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr2:20238600-20248800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:20238800-20247800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:20239800-20242600	Weak transcription	Spleen	Spleen
18	chr2:20240000-20242800	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:20240400-20245400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr2:20240600-20243200	Weak transcription	Brain Substantia Nigra	brain
21	chr2:20240600-20243400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:20240600-20243400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:20240600-20243800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:20240600-20244000	Enhancers	HUVEC	blood vessel
25	chr2:20240600-20244200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:20240600-20247800	Weak transcription	HSMMtube	muscle
27	chr2:20240600-20247800	Weak transcription	NHLF	lung
28	chr2:20240600-20248000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr2:20240600-20248200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:20240600-20248200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:20240600-20248200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:20240600-20248200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:20240600-20248200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:20240600-20249200	Weak transcription	Colonic Mucosa	Colon
35	chr2:20240600-20249800	Weak transcription	Gastric	stomach
36	chr2:20240800-20243400	Weak transcription	Stomach Smooth Muscle	stomach
37	chr2:20240800-20243600	Weak transcription	Brain Anterior Caudate	brain
38	chr2:20240800-20243600	Weak transcription	Fetal Lung	lung
39	chr2:20240800-20243600	Weak transcription	NHDF-Ad	bronchial
40	chr2:20240800-20243800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:20240800-20243800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:20240800-20244200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:20240800-20244800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:20240800-20245600	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:20240800-20246800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:20240800-20247600	Weak transcription	HMEC	breast
47	chr2:20240800-20248000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:20240800-20248000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:20240800-20248000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:20240800-20248000	Weak transcription	Fetal Kidney	kidney

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