Variant report

Variant	rs72923021
Chromosome Location	chr2:85821676-85821677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr2:85821352-85823520	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:85821253-85823228	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:85821574-85823134	GM12891	blood:	n/a	n/a
4	POLR2A	chr2:85821278-85823600	HUVEC	blood vessel:	n/a	n/a
5	PML	chr2:85821507-85823275	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:85821587-85824943	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:85821118-85823521	K562	blood:	n/a	n/a
8	WRNIP1	chr2:85821575-85822762	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:85821490-85821982	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:85821637-85823302	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:85821234-85823184	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr2:85821369-85825652	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:85821358-85821997	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:85821519-85821823	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr2:85821658-85825153	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:85821309-85823251	K562	blood:	n/a	n/a
17	POLR2A	chr2:85821533-85824142	K562	blood:	n/a	n/a
18	RFX5	chr2:85821432-85823573	SK-N-SH	brain:	n/a	chr2:85822709-85822718 chr2:85822788-85822797
19	POLR2A	chr2:85821479-85823246	H1-hESC	embryonic stem cell:	n/a	n/a
20	STAT5A	chr2:85821569-85823273	GM12878	blood:	n/a	chr2:85822185-85822193
21	POLR2A	chr2:85821235-85821946	K562	blood:	n/a	n/a
22	POLR2A	chr2:85821285-85828013	HepG2	liver:	n/a	n/a
23	POLR2A	chr2:85821484-85823489	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:85821591-85821771	MCF10A-Er-Src	breast:	n/a	n/a
25	POLR2A	chr2:85821616-85821824	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr2:85821319-85823632	HUVEC	blood vessel:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85802926..85807956-chr2:85820760..85828546,8	K562	blood:
2	chr1:201984723..201985418-chr2:85821518..85822517,2	Hela-S3	cervix:
3	chr2:85594724..85597082-chr2:85821225..85823571,3	K562	blood:
4	chr2:85647963..85650741-chr2:85821196..85824176,3	K562	blood:
5	chr2:85785429..85790468-chr2:85820934..85826927,9	MCF-7	breast:
6	chr2:85646214..85648407-chr2:85821151..85823018,2	K562	blood:
7	chr2:85764454..85770994-chr2:85819148..85831427,14	K562	blood:
8	chr2:85820402..85822148-chr2:85985989..85987607,2	K562	blood:
9	chr2:85764880..85767543-chr2:85819729..85822384,2	MCF-7	breast:
10	chr2:74683585..74685846-chr2:85821390..85823281,2	MCF-7	breast:
11	chr2:85779351..85781176-chr2:85819993..85821834,2	MCF-7	breast:
12	chr2:85648213..85650447-chr2:85821641..85823247,2	MCF-7	breast:
13	chr2:85820787..85822313-chr2:86179412..86182366,2	K562	blood:
14	chr2:85765572..85767946-chr2:85820164..85824365,5	MCF-7	breast:
15	chr2:85788313..85790216-chr2:85821578..85824119,2	K562	blood:
16	chr2:85765237..85769549-chr2:85821409..85826975,10	K562	blood:

No data

Variant related genes	Relation type
RNF181	TF binding region
ENSG00000239779	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000115486	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000152292	Chromatin interaction
ENSG00000242095	Chromatin interaction

rs_ID	r²[population]
rs56981951	1.00[AMR][1000 genomes]
rs72923066	0.82[AFR][1000 genomes]

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85818400-85821800	Weak transcription	Aorta	Aorta
2	chr2:85818800-85821800	Genic enhancers	HSMM	muscle
3	chr2:85819200-85821800	Weak transcription	NH-A	brain
4	chr2:85819400-85821800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:85820000-85822000	Enhancers	Esophagus	oesophagus
6	chr2:85820200-85822000	Enhancers	Right Ventricle	heart
7	chr2:85820600-85822000	Weak transcription	Ovary	ovary
8	chr2:85821000-85821800	Weak transcription	HSMMtube	muscle
9	chr2:85821200-85821800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:85821200-85821800	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:85821200-85821800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:85821200-85821800	Enhancers	Fetal Heart	heart
13	chr2:85821200-85822000	Enhancers	Fetal Muscle Trunk	muscle
14	chr2:85821200-85822000	Enhancers	Psoas Muscle	Psoas
15	chr2:85821200-85822000	Enhancers	Right Atrium	heart
16	chr2:85821200-85822200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:85821200-85822200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:85821200-85822200	Enhancers	Spleen	Spleen
19	chr2:85821400-85821800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:85821400-85821800	Enhancers	Primary B cells from cord blood	blood
21	chr2:85821400-85821800	Enhancers	Primary T cells fromperipheralblood	blood
22	chr2:85821400-85821800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr2:85821400-85821800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:85821400-85821800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:85821400-85821800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:85821400-85821800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:85821400-85821800	Enhancers	Brain Cingulate Gyrus	brain
28	chr2:85821400-85821800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:85821400-85821800	Enhancers	Brain Substantia Nigra	brain
30	chr2:85821400-85821800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:85821400-85821800	Enhancers	Fetal Intestine Small	intestine
32	chr2:85821400-85821800	Enhancers	Thymus	Thymus
33	chr2:85821400-85821800	Flanking Active TSS	HepG2	liver
34	chr2:85821400-85821800	Enhancers	HUVEC	blood vessel
35	chr2:85821400-85821800	Enhancers	NHDF-Ad	bronchial
36	chr2:85821400-85822000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:85821400-85822000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:85821400-85822000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:85821400-85822000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:85821400-85822000	Enhancers	Fetal Muscle Leg	muscle
41	chr2:85821400-85822000	Enhancers	Placenta	Placenta
42	chr2:85821400-85822000	Enhancers	Fetal Stomach	stomach
43	chr2:85821400-85822000	Enhancers	Gastric	stomach
44	chr2:85821400-85822000	Enhancers	Left Ventricle	heart
45	chr2:85821400-85822000	Flanking Active TSS	GM12878-XiMat	blood
46	chr2:85821400-85822200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:85821400-85822200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:85821400-85822200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:85821400-85822200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
50	chr2:85821400-85822200	Enhancers	Sigmoid Colon	Sigmoid Colon

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