Variant report

Variant	rs10186164
Chromosome Location	chr2:85822523-85822524
allele	C/G
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	chr2:85822466-85822963	GM12878	blood:	n/a	chr2:85822690-85822701
2	POLR2A	chr2:85822350-85823095	GM12892	blood:	n/a	n/a
3	HEY1	chr2:85821677-85825025	HepG2	liver:	n/a	n/a
4	GABPA	chr2:85822165-85823130	SK-N-SH	brain:	n/a	chr2:85822737-85822744
5	TEAD4	chr2:85822264-85823144	K562	blood:	n/a	n/a
6	JUND	chr2:85822362-85823212	A549	lung:	n/a	chr2:85822787-85822796 chr2:85822710-85822719
7	YY1	chr2:85822213-85823360	HepG2	liver:	n/a	chr2:85823266-85823275 chr2:85822402-85822411
8	TAF1	chr2:85822400-85823003	H1-neurons	neurons:	n/a	n/a
9	MAZ	chr2:85822314-85823477	K562	blood:	n/a	chr2:85823211-85823220
10	YY1	chr2:85822457-85823157	NT2-D1	testis:	n/a	n/a
11	SIN3AK20	chr2:85822281-85823178	HepG2	liver:	n/a	n/a
12	REST	chr2:85822224-85822645	SK-N-SH	brain:	n/a	chr2:85822435-85822444 chr2:85822486-85822499
13	USF1	chr2:85822400-85822991	SK-N-SH_RA	brain:	n/a	chr2:85822690-85822701
14	GTF2F1	chr2:85822206-85823091	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr2:85822026-85823135	K562	blood:	n/a	n/a
16	PML	chr2:85822388-85823213	K562	blood:	n/a	n/a
17	FOSL2	chr2:85822304-85823214	A549	lung:	n/a	chr2:85822787-85822796 chr2:85822710-85822719
18	TBP	chr2:85822426-85823070	GM12878	blood:	n/a	n/a
19	RELA	chr2:85822462-85823134	GM18505	blood:	n/a	n/a
20	POLR2A	chr2:85822031-85823200	IMR90	lung:	n/a	n/a
21	TAF1	chr2:85822423-85823043	GM12891	blood:	n/a	n/a
22	REST	chr2:85822059-85823545	H1-neurons	neurons:	n/a	chr2:85822435-85822444 chr2:85822486-85822499
23	TBL1XR1	chr2:85822330-85822985	K562	blood:	n/a	n/a
24	TAF1	chr2:85822303-85822767	Hela-S3	cervix:	n/a	n/a
25	MTA3	chr2:85821352-85823520	GM12878	blood:	n/a	n/a
26	NFYA	chr2:85822428-85822979	GM12878	blood:	n/a	chr2:85822706-85822721 chr2:85822785-85822800 chr2:85822706-85822720 chr2:85822708-85822718 chr2:85822785-85822800 chr2:85822787-85822800 chr2:85822781-85822799 chr2:85822786-85822800 chr2:85822788-85822798
27	YY1	chr2:85822340-85823139	SK-N-SH_RA	brain:	n/a	chr2:85822402-85822411
28	POLR2A	chr2:85822273-85823287	MCF-7	breast:	n/a	n/a
29	MXI1	chr2:85822225-85823102	HepG2	liver:	n/a	n/a
30	HEY1	chr2:85822309-85823085	K562	blood:	n/a	n/a
31	USF1	chr2:85822251-85823010	K562	blood:	n/a	chr2:85822690-85822701
32	POLR2A	chr2:85821253-85823228	GM12878	blood:	n/a	n/a
33	SIN3AK20	chr2:85822279-85823120	SK-N-SH	brain:	n/a	n/a
34	TBP	chr2:85822169-85822981	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr2:85821727-85823119	GM18505	blood:	n/a	n/a
36	ELK1	chr2:85822414-85822962	Hela-S3	cervix:	n/a	n/a
37	REST	chr2:85822314-85823039	HepG2	liver:	n/a	chr2:85822435-85822444 chr2:85822486-85822499
38	MAX	chr2:85822355-85823107	K562	blood:	n/a	n/a
39	RAD21	chr2:85822412-85822685	HepG2	liver:	n/a	n/a
40	POLR2A	chr2:85822338-85823147	HCT-116	colon:	n/a	n/a
41	YY1	chr2:85822265-85823157	SK-N-SH_RA	brain:	n/a	chr2:85822402-85822411
42	POLR2A	chr2:85821574-85823134	GM12891	blood:	n/a	n/a
43	STAT1	chr2:85822108-85823313	GM12878	blood:	n/a	chr2:85822185-85822193
44	ELF1	chr2:85822044-85823159	HepG2	liver:	n/a	chr2:85822734-85822745 chr2:85822734-85822745 chr2:85822735-85822744
45	ELF1	chr2:85822038-85823293	MCF-7	breast:	n/a	chr2:85822734-85822745 chr2:85822734-85822745 chr2:85822735-85822744
46	RFX5	chr2:85822261-85823093	Hela-S3	cervix:	n/a	chr2:85822709-85822718 chr2:85822788-85822797
47	SP1	chr2:85822447-85822996	GM12878	blood:	n/a	chr2:85822707-85822728
48	MAX	chr2:85822321-85823103	NB4	blood:	n/a	n/a
49	MYC	chr2:85822514-85822986	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr2:85821278-85823600	HUVEC	blood vessel:	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	chr2:85645665..85648237-chr2:85822312..85824673,3	MCF-7	breast:
5	chr2:85822194..85823099-chr3:149530275..149531008,3	Hela-S3	cervix:
6	chr19:1275302..1276008-chr2:85822454..85823230,2	Hela-S3	cervix:
7	chr2:85594724..85597082-chr2:85821225..85823571,3	K562	blood:
8	chr2:85647963..85650741-chr2:85821196..85824176,3	K562	blood:
9	chr2:85785429..85790468-chr2:85820934..85826927,9	MCF-7	breast:
10	chr1:145381800..145384680-chr2:85821996..85823962,2	MCF-7	breast:
11	chr2:85646214..85648407-chr2:85821151..85823018,2	K562	blood:
12	chr2:85134027..85134692-chr2:85822279..85822974,2	Hela-S3	cervix:
13	chr2:85764454..85770994-chr2:85819148..85831427,14	K562	blood:
14	chr2:85822441..85823400-chr7:5632187..5632838,2	NB4	blood:
15	chr19:54693926..54694776-chr2:85822358..85823149,2	Hela-S3	cervix:
16	chr2:74683585..74685846-chr2:85821390..85823281,2	MCF-7	breast:
17	chr2:85644157..85646975-chr2:85821960..85823560,2	K562	blood:
18	chr17:73851288..73851832-chr2:85822209..85823200,2	Hela-S3	cervix:
19	chr2:85781595..85783590-chr2:85822310..85824885,2	MCF-7	breast:
20	chr2:85648213..85650447-chr2:85821641..85823247,2	MCF-7	breast:
21	chr12:129308199..129310201-chr2:85822340..85823983,2	MCF-7	breast:
22	chr2:85765572..85767946-chr2:85820164..85824365,5	MCF-7	breast:
23	chr2:85788313..85790216-chr2:85821578..85824119,2	K562	blood:
24	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
ENSG00000139370	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000132471	Chromatin interaction
ENSG00000144645	Chromatin interaction
ENSG00000075618	Chromatin interaction
ENSG00000242095	Chromatin interaction
ENSG00000171522	Chromatin interaction
ENSG00000082996	Chromatin interaction
ENSG00000170892	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000152292	Chromatin interaction
ENSG00000239779	Chromatin interaction
ENSG00000228300	Chromatin interaction
ENSG00000186854	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000042493	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000115486	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs4832178	1.00[AMR][1000 genomes]

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	chr2:85821400-85823400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr2:85821400-85823800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr2:85821600-85822600	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr2:85821600-85822600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:85821600-85822600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:85821600-85823600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr2:85821600-85823600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:85821600-85823800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:85821600-85823800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr2:85821600-85823800	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr2:85821600-85824000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr2:85821800-85823400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:85821800-85823800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr2:85821800-85824000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr2:85822000-85822600	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr2:85822000-85823000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:85822000-85823000	Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr2:85822000-85823200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr2:85822000-85823400	Active TSS	Gastric	stomach
20	chr2:85822000-85823600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:85822000-85823600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:85822000-85823600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:85822000-85823600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:85822000-85823600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:85822000-85823600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:85822000-85823600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:85822000-85823600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:85822000-85823600	Active TSS	Esophagus	oesophagus
29	chr2:85822000-85823600	Active TSS	Left Ventricle	heart
30	chr2:85822000-85823600	Active TSS	Lung	lung
31	chr2:85822000-85823600	Active TSS	Ovary	ovary
32	chr2:85822000-85823600	Active TSS	Psoas Muscle	Psoas
33	chr2:85822000-85823600	Active TSS	GM12878-XiMat	blood
34	chr2:85822000-85823600	Active TSS	K562	blood
35	chr2:85822000-85823800	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr2:85822200-85822600	Active TSS	Right Atrium	heart
37	chr2:85822200-85822600	Flanking Active TSS	HSMM	muscle
38	chr2:85822200-85823000	Active TSS	Primary B cells from peripheral blood	blood
39	chr2:85822200-85823000	Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr2:85822200-85823200	Active TSS	Primary T cells from cord blood	blood
41	chr2:85822200-85823200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
42	chr2:85822200-85823200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:85822200-85823200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:85822200-85823400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:85822200-85823400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:85822200-85823400	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr2:85822200-85823400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr2:85822200-85823400	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr2:85822200-85823400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr2:85822200-85823400	Active TSS	Primary T helper cells PMA-I stimulated	--

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