Variant report

Variant	rs73979736
Chromosome Location	chr2:178260699-178260700
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	USF1	chr2:178260321-178260739	A549	lung:	n/a	n/a
2	USF1	chr2:178260321-178260725	A549	lung:	n/a	n/a
3	MAX	chr2:178260337-178260716	NB4	blood:	n/a	chr2:178260524-178260534 chr2:178260541-178260551 chr2:178260508-178260518
4	SPI1	chr2:178260116-178260765	HL-60	blood:	n/a	chr2:178260370-178260377
5	USF2	chr2:178260362-178260702	GM12878	blood:	n/a	chr2:178260508-178260519 chr2:178260541-178260552 chr2:178260524-178260535

No.	Distal block	Cell Line	Cell type
1	chr2:178220224..178223052-chr2:178258523..178261393,2	K562	blood:
2	chr2:178112424..178116788-chr2:178259811..178263251,4	K562	blood:
3	chr2:178125970..178131401-chr2:178255081..178263132,15	K562	blood:
4	chr2:178257565..178262041-chr2:178276576..178279686,5	K562	blood:
5	chr2:178258938..178262041-chr2:178277248..178280629,3	K562	blood:
6	chr2:178202563..178204243-chr2:178260554..178263397,2	K562	blood:
7	chr2:178220224..178223061-chr2:178258523..178262241,3	K562	blood:
8	chr2:178141337..178143966-chr2:178259711..178261229,2	K562	blood:

Variant related genes	Relation type
NFE2L2	TF binding region
ENSG00000213963	TF binding region
ENSG00000116044	Chromatin interaction
ENSG00000222043	Chromatin interaction

rs_ID	r²[population]
rs10173667	1.00[AMR][1000 genomes]
rs10186918	1.00[AMR][1000 genomes]
rs11892161	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11900380	1.00[AMR][1000 genomes]
rs13413244	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13420517	1.00[AMR][1000 genomes]
rs28552775	1.00[AMR][1000 genomes]
rs58936343	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60692804	1.00[AMR][1000 genomes]
rs6758141	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73976182	1.00[AMR][1000 genomes]
rs73976751	1.00[AMR][1000 genomes]
rs9917195	1.00[AMR][1000 genomes]

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178256800-178261200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:178258000-178261800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:178258400-178261000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:178258400-178261000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:178258400-178261200	Weak transcription	Esophagus	oesophagus
6	chr2:178258400-178261200	Weak transcription	Gastric	stomach
7	chr2:178258400-178261600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:178258400-178261600	Weak transcription	Placenta	Placenta
9	chr2:178258400-178261800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:178258400-178261800	Weak transcription	Left Ventricle	heart
11	chr2:178258400-178262400	Weak transcription	Pancreas	Pancrea
12	chr2:178258400-178262400	Weak transcription	Small Intestine	intestine
13	chr2:178258400-178262800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:178258400-178263000	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr2:178258400-178263200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:178258400-178264400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr2:178258400-178264400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr2:178258400-178272600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr2:178258600-178261200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:178258600-178261200	Weak transcription	Colonic Mucosa	Colon
21	chr2:178258600-178261200	Weak transcription	NHLF	lung
22	chr2:178258600-178262400	Weak transcription	Fetal Thymus	thymus
23	chr2:178258600-178262600	Weak transcription	Ovary	ovary
24	chr2:178258600-178264000	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:178258600-178264200	Weak transcription	Right Atrium	heart
26	chr2:178258800-178261200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:178258800-178261200	Weak transcription	Psoas Muscle	Psoas
28	chr2:178258800-178262800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:178258800-178263000	Enhancers	NHEK	skin
30	chr2:178258800-178263400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:178258800-178264000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:178258800-178264400	Enhancers	Stomach Mucosa	stomach
33	chr2:178258800-178277200	Weak transcription	Right Ventricle	heart
34	chr2:178258800-178285000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr2:178258800-178294200	Weak transcription	Thymus	Thymus
36	chr2:178259000-178261000	Weak transcription	Osteobl	bone
37	chr2:178259000-178261400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr2:178259000-178261800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:178259000-178261800	Weak transcription	Fetal Intestine Large	intestine
40	chr2:178259000-178262800	Weak transcription	Brain Substantia Nigra	brain
41	chr2:178259000-178262800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr2:178259000-178263000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:178259000-178264800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr2:178259000-178269000	Weak transcription	Fetal Lung	lung
45	chr2:178259200-178261000	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:178259200-178262200	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:178259200-178262600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:178259200-178263200	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr2:178259200-178263600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr2:178259400-178261000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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