Variant report

Variant	rs73981071
Chromosome Location	chr2:191217074-191217075
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:5)
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	RCOR1	chr2:191216858-191217135	K562	blood:	n/a	n/a
2	EP300	chr2:191216953-191217176	K562	blood:	n/a	n/a
3	MYC	chr2:191216821-191217105	K562	blood:	n/a	n/a
4	ARID3A	chr2:191216798-191217113	K562	blood:	n/a	n/a
5	KAP1	chr2:191216817-191217126	U2OS	brain:	n/a	n/a
6	FOXA2	chr2:191216923-191218922	HepG2	liver:	n/a	n/a
7	MYC	chr2:191216827-191217090	K562	blood:	n/a	n/a
8	POLR2A	chr2:191216990-191217126	ProgFib	skin:	n/a	n/a
9	JUND	chr2:191216775-191217088	K562	blood:	n/a	n/a
10	MBD4	chr2:191216750-191218166	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:191215401..191217173-chr2:191219946..191221962,2	K562	blood:
2	chr2:191047766..191050235-chr2:191216230..191218317,2	K562	blood:
3	chr2:191212674..191214440-chr2:191216192..191218730,2	MCF-7	breast:
4	chr2:191211450..191214402-chr2:191215945..191217480,2	MCF-7	breast:
5	chr2:191207771..191209541-chr2:191216571..191218107,2	MCF-7	breast:

No data

Variant related genes	Relation type
INPP1	TF binding region
ENSG00000151689	Chromatin interaction
ENSG00000198130	Chromatin interaction

rs_ID	r²[population]
rs13411353	1.00[AMR][1000 genomes]
rs55706833	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55927088	0.85[AFR][1000 genomes]
rs56082128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58593410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59822230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6707066	0.82[AFR][1000 genomes]
rs73979204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981039	0.82[AFR][1000 genomes]
rs73981048	0.85[AFR][1000 genomes]
rs73981063	0.93[AFR][1000 genomes]
rs73981064	0.85[AFR][1000 genomes]
rs73981065	0.93[AFR][1000 genomes]
rs73981067	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981068	0.85[AFR][1000 genomes]
rs73981069	0.85[AFR][1000 genomes]
rs73981072	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73981079	0.85[AFR][1000 genomes]

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191209200-191217200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:191209400-191217200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:191209400-191217800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:191209400-191221000	Weak transcription	Placenta	Placenta
5	chr2:191209400-191222800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr2:191209400-191224600	Weak transcription	Colonic Mucosa	Colon
7	chr2:191209600-191217800	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:191209800-191217200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:191209800-191217200	Weak transcription	Right Ventricle	heart
10	chr2:191209800-191217400	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:191209800-191217800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:191209800-191223200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:191209800-191223400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:191209800-191224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:191209800-191224600	Weak transcription	NH-A	brain
16	chr2:191210000-191217200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr2:191210000-191218600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:191210000-191220800	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr2:191210000-191221000	Weak transcription	Adipose Nuclei	Adipose
20	chr2:191210000-191223600	Weak transcription	Osteobl	bone
21	chr2:191210000-191224400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:191210400-191217600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:191210400-191218000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:191210400-191223400	Weak transcription	NHLF	lung
25	chr2:191210400-191224200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:191210600-191217200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr2:191210600-191218000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:191211000-191224200	Weak transcription	HUVEC	blood vessel
29	chr2:191211400-191238000	Weak transcription	Hela-S3	cervix
30	chr2:191212200-191224600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:191214000-191230400	Weak transcription	Aorta	Aorta
32	chr2:191214600-191217200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr2:191214800-191218600	Enhancers	Brain Anterior Caudate	brain
34	chr2:191214800-191219600	Enhancers	Brain Substantia Nigra	brain
35	chr2:191215000-191217200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:191215200-191217200	Strong transcription	HSMM	muscle
37	chr2:191215400-191217200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr2:191215400-191220800	Weak transcription	Rectal Smooth Muscle	rectum
39	chr2:191215800-191218000	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:191216200-191217400	Enhancers	K562	blood
41	chr2:191216200-191219600	Enhancers	Duodenum Mucosa	Duodenum
42	chr2:191216400-191218400	Enhancers	Fetal Heart	heart
43	chr2:191216400-191219800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr2:191216600-191217800	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr2:191216600-191218800	Enhancers	Brain Cingulate Gyrus	brain
46	chr2:191216600-191218800	Enhancers	Brain Hippocampus Middle	brain
47	chr2:191216600-191220200	Enhancers	Liver	Liver
48	chr2:191216600-191221600	Enhancers	Stomach Mucosa	stomach
49	chr2:191216800-191217200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:191216800-191217400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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