Variant report

Variant	rs2165407
Chromosome Location	chr2:191213225-191213226
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	STAT3	chr2:191213134-191213581	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr2:191213107-191213283	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:191211450..191214402-chr2:191215945..191217480,2	MCF-7	breast:
2	chr2:191160275..191162665-chr2:191211268..191214230,2	K562	blood:
3	chr2:191212674..191214440-chr2:191216192..191218730,2	MCF-7	breast:
4	chr2:191212374..191214563-chr2:191217575..191219324,2	K562	blood:

Variant related genes	Relation type
HIBCH	TF binding region

rs_ID	r²[population]
rs10182630	0.81[AFR][1000 genomes]
rs10804033	1.00[AFR][1000 genomes]
rs2028433	0.81[AFR][1000 genomes]
rs2664265	0.81[AFR][1000 genomes]
rs6751731	0.81[AFR][1000 genomes]
rs698605	0.81[AFR][1000 genomes]
rs7571334	0.81[AFR][1000 genomes]
rs785050	0.81[AFR][1000 genomes]
rs785051	0.81[AFR][1000 genomes]

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191205800-191216200	Weak transcription	K562	blood
2	chr2:191209200-191216800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:191209200-191216800	Weak transcription	Gastric	stomach
4	chr2:191209200-191216800	Weak transcription	Lung	lung
5	chr2:191209200-191217200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:191209400-191216800	Weak transcription	Left Ventricle	heart
7	chr2:191209400-191217200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:191209400-191217800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:191209400-191221000	Weak transcription	Placenta	Placenta
10	chr2:191209400-191222800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:191209400-191224600	Weak transcription	Colonic Mucosa	Colon
12	chr2:191209600-191216800	Weak transcription	Fetal Stomach	stomach
13	chr2:191209600-191217800	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:191209800-191214800	Weak transcription	HSMMtube	muscle
15	chr2:191209800-191215000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:191209800-191215000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:191209800-191215200	Weak transcription	HSMM	muscle
18	chr2:191209800-191216400	Weak transcription	Fetal Heart	heart
19	chr2:191209800-191216600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:191209800-191216600	Weak transcription	Stomach Mucosa	stomach
21	chr2:191209800-191216800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:191209800-191216800	Weak transcription	Fetal Intestine Large	intestine
23	chr2:191209800-191217000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:191209800-191217200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:191209800-191217200	Weak transcription	Right Ventricle	heart
26	chr2:191209800-191217400	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:191209800-191217800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:191209800-191223200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:191209800-191223400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:191209800-191224600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr2:191209800-191224600	Weak transcription	NH-A	brain
32	chr2:191210000-191215000	Weak transcription	Brain Angular Gyrus	brain
33	chr2:191210000-191215000	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:191210000-191215200	Weak transcription	Right Atrium	heart
35	chr2:191210000-191216600	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:191210000-191217200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr2:191210000-191218600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:191210000-191220800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr2:191210000-191221000	Weak transcription	Adipose Nuclei	Adipose
40	chr2:191210000-191223600	Weak transcription	Osteobl	bone
41	chr2:191210000-191224400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:191210200-191216200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:191210200-191216800	Weak transcription	NHEK	skin
44	chr2:191210400-191214600	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr2:191210400-191215000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:191210400-191215000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr2:191210400-191215000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:191210400-191216800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:191210400-191216800	Weak transcription	HMEC	breast
50	chr2:191210400-191217600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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