Variant report

Variant	rs528164060
Chromosome Location	chr2:85822276-85822277
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	HEY1	chr2:85821677-85825025	HepG2	liver:	n/a	n/a
2	GABPA	chr2:85822165-85823130	SK-N-SH	brain:	n/a	chr2:85822737-85822744
3	TEAD4	chr2:85822264-85823144	K562	blood:	n/a	n/a
4	YY1	chr2:85822213-85823360	HepG2	liver:	n/a	chr2:85823266-85823275 chr2:85822402-85822411
5	REST	chr2:85822224-85822645	SK-N-SH	brain:	n/a	chr2:85822435-85822444 chr2:85822486-85822499
6	GTF2F1	chr2:85822206-85823091	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr2:85822026-85823135	K562	blood:	n/a	n/a
8	POLR2A	chr2:85822031-85823200	IMR90	lung:	n/a	n/a
9	REST	chr2:85822059-85823545	H1-neurons	neurons:	n/a	chr2:85822435-85822444 chr2:85822486-85822499
10	MTA3	chr2:85821352-85823520	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:85822273-85823287	MCF-7	breast:	n/a	n/a
12	MXI1	chr2:85822225-85823102	HepG2	liver:	n/a	n/a
13	USF1	chr2:85822251-85823010	K562	blood:	n/a	chr2:85822690-85822701
14	POLR2A	chr2:85821253-85823228	GM12878	blood:	n/a	n/a
15	TBP	chr2:85822169-85822981	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr2:85821727-85823119	GM18505	blood:	n/a	n/a
17	YY1	chr2:85822265-85823157	SK-N-SH_RA	brain:	n/a	chr2:85822402-85822411
18	POLR2A	chr2:85821574-85823134	GM12891	blood:	n/a	n/a
19	STAT1	chr2:85822108-85823313	GM12878	blood:	n/a	chr2:85822185-85822193
20	ELF1	chr2:85822044-85823159	HepG2	liver:	n/a	chr2:85822734-85822745 chr2:85822734-85822745 chr2:85822735-85822744
21	ELF1	chr2:85822038-85823293	MCF-7	breast:	n/a	chr2:85822734-85822745 chr2:85822734-85822745 chr2:85822735-85822744
22	RFX5	chr2:85822261-85823093	Hela-S3	cervix:	n/a	chr2:85822709-85822718 chr2:85822788-85822797
23	POLR2A	chr2:85821278-85823600	HUVEC	blood vessel:	n/a	n/a
24	REST	chr2:85822150-85823147	HL-60	blood:	n/a	chr2:85822435-85822444 chr2:85822486-85822499
25	MXI1	chr2:85821708-85824131	IMR90	lung:	n/a	n/a
26	SP1	chr2:85822242-85823226	A549	lung:	n/a	chr2:85823115-85823125 chr2:85823212-85823226 chr2:85823208-85823218 chr2:85822707-85822728
27	MXI1	chr2:85821768-85823625	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr2:85822183-85823455	PBDE	blood:	n/a	n/a
29	MAX	chr2:85822249-85823245	A549	lung:	n/a	chr2:85823211-85823220
30	EGR1	chr2:85822250-85822519	K562	blood:	n/a	n/a
31	MBD4	chr2:85822091-85823518	HepG2	liver:	n/a	n/a
32	NFIC	chr2:85821976-85822758	GM12878	blood:	n/a	n/a
33	BRCA1	chr2:85822231-85823061	Hela-S3	cervix:	n/a	n/a
34	MAFK	chr2:85822181-85822691	HepG2	liver:	n/a	chr2:85822211-85822225
35	ELF1	chr2:85822171-85823360	GM12878	blood:	n/a	chr2:85822734-85822745 chr2:85822734-85822745 chr2:85822735-85822744
36	PML	chr2:85821507-85823275	GM12878	blood:	n/a	n/a
37	POLR2A	chr2:85821587-85824943	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:85822028-85823224	Hela-S3	cervix:	n/a	n/a
39	ELF1	chr2:85822092-85823278	HCT-116	colon:	n/a	chr2:85822734-85822745 chr2:85822734-85822745 chr2:85822735-85822744
40	GABPA	chr2:85822158-85823157	A549	lung:	n/a	chr2:85822737-85822744
41	POLR2A	chr2:85822012-85822319	HCT-116	colon:	n/a	n/a
42	POLR2A	chr2:85822063-85823351	HUVEC	blood vessel:	n/a	n/a
43	UBTF	chr2:85821990-85823010	K562	blood:	n/a	n/a
44	USF1	chr2:85822165-85823134	A549	lung:	n/a	chr2:85822690-85822701
45	MAX	chr2:85822222-85823375	MCF-7	breast:	n/a	chr2:85823211-85823220
46	REST	chr2:85822274-85822716	K562	blood:	n/a	chr2:85822435-85822444 chr2:85822486-85822499
47	CHD2	chr2:85822246-85823052	K562	blood:	n/a	n/a
48	ARID3A	chr2:85822245-85823089	HepG2	liver:	n/a	n/a
49	TAF1	chr2:85822218-85823164	K562	blood:	n/a	n/a
50	RUNX3	chr2:85822214-85823062	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:85821949..85822691-chr3:32022268..32023255,2	Hela-S3	cervix:
2	chr2:85802926..85807956-chr2:85820760..85828546,8	K562	blood:
3	chr2:85822216..85823096-chr5:40679131..40679668,2	Hela-S3	cervix:
4	chr2:85822194..85823099-chr3:149530275..149531008,3	Hela-S3	cervix:
5	chr1:201984723..201985418-chr2:85821518..85822517,2	Hela-S3	cervix:
6	chr2:85594724..85597082-chr2:85821225..85823571,3	K562	blood:
7	chr2:85647963..85650741-chr2:85821196..85824176,3	K562	blood:
8	chr2:85785429..85790468-chr2:85820934..85826927,9	MCF-7	breast:
9	chr1:145381800..145384680-chr2:85821996..85823962,2	MCF-7	breast:
10	chr2:85646214..85648407-chr2:85821151..85823018,2	K562	blood:
11	chr2:85764454..85770994-chr2:85819148..85831427,14	K562	blood:
12	chr2:85764880..85767543-chr2:85819729..85822384,2	MCF-7	breast:
13	chr2:74683585..74685846-chr2:85821390..85823281,2	MCF-7	breast:
14	chr2:85644157..85646975-chr2:85821960..85823560,2	K562	blood:
15	chr17:73851288..73851832-chr2:85822209..85823200,2	Hela-S3	cervix:
16	chr2:85648213..85650447-chr2:85821641..85823247,2	MCF-7	breast:
17	chr2:85820787..85822313-chr2:86179412..86182366,2	K562	blood:
18	chr2:85765572..85767946-chr2:85820164..85824365,5	MCF-7	breast:
19	chr2:85788313..85790216-chr2:85821578..85824119,2	K562	blood:
20	chr2:85765237..85769549-chr2:85821409..85826975,10	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM150A-1	chr2:85822133-85822665	NONHSAT072023

Variant related genes	Relation type
RNF181	TF binding region
ENSG00000233396	Chromatin interaction
ENSG00000042493	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000082996	Chromatin interaction
ENSG00000115486	Chromatin interaction
ENSG00000144645	Chromatin interaction
ENSG00000242095	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000152292	Chromatin interaction
ENSG00000132471	Chromatin interaction
ENSG00000171522	Chromatin interaction
ENSG00000239779	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv992753	chr2:85822210-85825244	Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85821400-85822400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr2:85821400-85822400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
3	chr2:85821400-85822400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:85821400-85822400	Flanking Active TSS	Rectal Smooth Muscle	rectum
5	chr2:85821400-85822400	Flanking Active TSS	Dnd41	blood
6	chr2:85821400-85823400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:85821400-85823800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr2:85821600-85822400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr2:85821600-85822400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr2:85821600-85822400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr2:85821600-85822400	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr2:85821600-85822400	Flanking Active TSS	Liver	Liver
13	chr2:85821600-85822400	Flanking Active TSS	Brain Germinal Matrix	brain
14	chr2:85821600-85822400	Flanking Active TSS	Colonic Mucosa	Colon
15	chr2:85821600-85822400	Flanking Active TSS	Fetal Thymus	thymus
16	chr2:85821600-85822400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr2:85821600-85822400	Flanking Active TSS	Stomach Smooth Muscle	stomach
18	chr2:85821600-85822400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:85821600-85822400	Flanking Active TSS	NHEK	skin
20	chr2:85821600-85822600	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr2:85821600-85822600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:85821600-85822600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:85821600-85823600	Active TSS	H1 Cell Line	embryonic stem cell
24	chr2:85821600-85823600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:85821600-85823800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr2:85821600-85823800	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:85821600-85823800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:85821600-85824000	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:85821800-85822400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:85821800-85822400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:85821800-85822400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr2:85821800-85822400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr2:85821800-85822400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr2:85821800-85822400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr2:85821800-85822400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr2:85821800-85822400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:85821800-85822400	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr2:85821800-85822400	Flanking Active TSS	Fetal Heart	heart
39	chr2:85821800-85822400	Flanking Active TSS	HSMMtube	muscle
40	chr2:85821800-85822400	Flanking Active TSS	HUVEC	blood vessel
41	chr2:85821800-85822400	Flanking Active TSS	NH-A	brain
42	chr2:85821800-85822400	Flanking Active TSS	Osteobl	bone
43	chr2:85821800-85823400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr2:85821800-85823800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr2:85821800-85824000	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr2:85822000-85822400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:85822000-85822400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr2:85822000-85822400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr2:85822000-85822400	Flanking Active TSS	Fetal Brain Male	brain
50	chr2:85822000-85822400	Flanking Active TSS	Fetal Brain Female	brain

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