Variant report

Variant	rs2232741
Chromosome Location	chr2:85822847-85822848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:415)
CpG islands
(count:61)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3AK20	chr2:85822760-85823124	PANC-1	pancreas:	n/a	n/a
2	USF1	chr2:85822466-85822963	GM12878	blood:	n/a	chr2:85822690-85822701
3	POLR2A	chr2:85822350-85823095	GM12892	blood:	n/a	n/a
4	HEY1	chr2:85821677-85825025	HepG2	liver:	n/a	n/a
5	GABPA	chr2:85822165-85823130	SK-N-SH	brain:	n/a	chr2:85822737-85822744
6	TEAD4	chr2:85822264-85823144	K562	blood:	n/a	n/a
7	JUND	chr2:85822362-85823212	A549	lung:	n/a	chr2:85822787-85822796 chr2:85822710-85822719
8	YY1	chr2:85822213-85823360	HepG2	liver:	n/a	chr2:85823266-85823275 chr2:85822402-85822411
9	TAF1	chr2:85822400-85823003	H1-neurons	neurons:	n/a	n/a
10	MAZ	chr2:85822314-85823477	K562	blood:	n/a	chr2:85823211-85823220
11	YY1	chr2:85822457-85823157	NT2-D1	testis:	n/a	n/a
12	SIN3AK20	chr2:85822281-85823178	HepG2	liver:	n/a	n/a
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	MTA3	chr2:85821352-85823520	GM12878	blood:	n/a	n/a
25	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
26	YY1	chr2:85822340-85823139	SK-N-SH_RA	brain:	n/a	chr2:85822402-85822411
27	POLR2A	chr2:85822273-85823287	MCF-7	breast:	n/a	n/a
28	MXI1	chr2:85822225-85823102	HepG2	liver:	n/a	n/a
29	HEY1	chr2:85822309-85823085	K562	blood:	n/a	n/a
30	USF1	chr2:85822251-85823010	K562	blood:	n/a	chr2:85822690-85822701
31	POLR2A	chr2:85821253-85823228	GM12878	blood:	n/a	n/a
32	GABPA	chr2:85822635-85823032	HepG2	liver:	n/a	chr2:85822737-85822744
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	POLR2A	chr2:85822338-85823147	HCT-116	colon:	n/a	n/a
40	YY1	chr2:85822265-85823157	SK-N-SH_RA	brain:	n/a	chr2:85822402-85822411
41	POLR2A	chr2:85821574-85823134	GM12891	blood:	n/a	n/a
42	STAT1	chr2:85822108-85823313	GM12878	blood:	n/a	chr2:85822185-85822193
43	ELF1	chr2:85822044-85823159	HepG2	liver:	n/a	chr2:85822734-85822745 chr2:85822734-85822745 chr2:85822735-85822744
44	ELF1	chr2:85822038-85823293	MCF-7	breast:	n/a	chr2:85822734-85822745 chr2:85822734-85822745 chr2:85822735-85822744
45	MAX	chr2:85822561-85822916	H1-hESC	embryonic stem cell:	n/a	n/a
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	POLR2A	chr2:85822524-85823105	A549	lung:	n/a	n/a
50	MYC	chr2:85822514-85822986	MCF10A-Er-Src	breast:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:85822830-85822880	AG04449	skin:	fetal
2	chr2:85822830-85822880	HCF	heart:	n/a
3	chr2:85822830-85822880	T-47D	breast:	n/a
4	chr2:85822830-85822880	PFSK-1	brain:	n/a
5	chr2:85822830-85822880	SAEC	small airway:	n/a
6	chr2:85822830-85822880	HRPEpiC	eye:	n/a
7	chr2:85822830-85822880	GM12878	blood:	n/a
8	chr2:85822830-85822880	HPAEpiC	pulmonary alveolar:	n/a
9	chr2:85822830-85822880	IMR90	lung:	fetal
10	chr2:85822830-85822880	NHBE	bronchial:	n/a
11	chr2:85822830-85822880	SKMC	muscle:	n/a
12	chr2:85822830-85822880	GM19239	blood:	n/a
13	chr2:85822830-85822880	A549	lung:	n/a
14	chr2:85822830-85822880	BE2_C	brain:	n/a
15	chr2:85822830-85822880	NH-A	brain:	n/a
16	chr2:85822830-85822880	ovcar-3	ovarian:	n/a
17	chr2:85822830-85822880	HUVEC	blood vessel:	n/a
18	chr2:85822830-85822880	BJ	skin:	n/a
19	chr2:85822830-85822880	AoSMC	blood vessel:	n/a
20	chr2:85822830-85822880	HAEpiC	amniotic membrane:	n/a
21	chr2:85822830-85822880	HepG2	liver:	n/a
22	chr2:85822830-85822880	Caco-2	colon:	n/a
23	chr2:85822830-85822880	RPTEC	kidney:	n/a
24	chr2:85822830-85822880	HCPEpiC	choroid plexus:	n/a
25	chr2:85822830-85822880	ProgFib	skin:	n/a
26	chr2:85822830-85822880	NT2-D1	testis:	n/a
27	chr2:85822830-85822880	LNCaP	prostate:	n/a
28	chr2:85822830-85822880	SK-N-MC	brain:	n/a
29	chr2:85822830-85822880	ECC-1	luminal epithelium:	n/a
30	chr2:85822830-85822880	HIPEpiC	eye:	n/a
31	chr2:85822830-85822880	AG04450	lung:	fetal
32	chr2:85822830-85822880	HRCEpiC	kidney:	n/a
33	chr2:85822830-85822880	NB4	blood:	n/a
34	chr2:85822830-85822880	HNPCEpiC	eye:	n/a
35	chr2:85822830-85822880	SK-N-SH	brain:	n/a
36	chr2:85822830-85822880	HEEpiC	esophagus:	n/a
37	chr2:85822830-85822880	AG10803	skin:	n/a
38	chr2:85822830-85822880	HL-60	blood:	n/a
39	chr2:85822830-85822880	HRE	kidney:	n/a
40	chr2:85822830-85822880	K562	blood:	n/a
41	chr2:85822830-85822880	PrEC	prostate:	n/a
42	chr2:85822830-85822880	Hela-S3	cervix:	n/a
43	chr2:85822830-85822880	AG09319	gingival:	n/a
44	chr2:85822830-85822880	PANC-1	pancreas:	n/a
45	chr2:85822830-85822880	Hepatocyte	liver:	n/a
46	chr2:85822830-85822880	Jurkat	blood:	n/a
47	chr2:85822830-85822880	H1-hESC	embryonic stem cell:	embryo
48	chr2:85822830-85822880	HCT-116	colon:	n/a
49	chr2:85822830-85822880	MCF10A-Er-Src	breast:	n/a
50	chr2:85822830-85822880	GM12892	blood:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:85802926..85807956-chr2:85820760..85828546,8	K562	blood:
2	chr2:85822216..85823096-chr5:40679131..40679668,2	Hela-S3	cervix:
3	chr2:85645665..85648237-chr2:85822312..85824673,3	MCF-7	breast:
4	chr2:85822194..85823099-chr3:149530275..149531008,3	Hela-S3	cervix:
5	chr2:29093068..29093611-chr2:85822821..85823344,2	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	chr2:85822691..85823212-chr2:151343556..151344138,2	Hela-S3	cervix:
19	chr17:73851288..73851832-chr2:85822209..85823200,2	Hela-S3	cervix:
20	chr2:85781595..85783590-chr2:85822310..85824885,2	MCF-7	breast:
21	chr2:85648213..85650447-chr2:85821641..85823247,2	MCF-7	breast:
22	chr12:129308199..129310201-chr2:85822340..85823983,2	MCF-7	breast:
23	chr2:85788313..85790312-chr2:85822619..85824449,2	K562	blood:
24	chr2:85765572..85767946-chr2:85820164..85824365,5	MCF-7	breast:
25	chr2:85788313..85790216-chr2:85821578..85824119,2	K562	blood:
26	chr2:85765237..85769549-chr2:85821409..85826975,10	K562	blood:
27	chr2:85822691..85823452-chr3:128996809..128997783,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
RNF181	TF binding region
RNF181	CpG island
ENSG00000171103	Chromatin interaction
ENSG00000115486	Chromatin interaction
ENSG00000075618	Chromatin interaction
ENSG00000115963	Chromatin interaction
ENSG00000183624	Chromatin interaction
ENSG00000171522	Chromatin interaction
ENSG00000082996	Chromatin interaction
ENSG00000228300	Chromatin interaction
ENSG00000233396	Chromatin interaction
ENSG00000132471	Chromatin interaction
ENSG00000170892	Chromatin interaction
ENSG00000186854	Chromatin interaction
ENSG00000139370	Chromatin interaction
ENSG00000201558	Chromatin interaction
ENSG00000118640	Chromatin interaction
ENSG00000168906	Chromatin interaction
ENSG00000152292	Chromatin interaction
ENSG00000042493	Chromatin interaction
ENSG00000242095	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	chr2:85821400-85823400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr2:85821400-85823800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr2:85821600-85823600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr2:85821600-85823600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:85821600-85823800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:85821600-85823800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr2:85821600-85823800	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr2:85821600-85824000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr2:85821800-85823400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:85821800-85823800	Active TSS	H9 Cell Line	embryonic stem cell
11	chr2:85821800-85824000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr2:85822000-85823000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:85822000-85823000	Active TSS	Cortex derived primary cultured neurospheres	brain
14	chr2:85822000-85823200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr2:85822000-85823400	Active TSS	Gastric	stomach
16	chr2:85822000-85823600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:85822000-85823600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:85822000-85823600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:85822000-85823600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:85822000-85823600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:85822000-85823600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:85822000-85823600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:85822000-85823600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
24	chr2:85822000-85823600	Active TSS	Esophagus	oesophagus
25	chr2:85822000-85823600	Active TSS	Left Ventricle	heart
26	chr2:85822000-85823600	Active TSS	Lung	lung
27	chr2:85822000-85823600	Active TSS	Ovary	ovary
28	chr2:85822000-85823600	Active TSS	Psoas Muscle	Psoas
29	chr2:85822000-85823600	Active TSS	GM12878-XiMat	blood
30	chr2:85822000-85823600	Active TSS	K562	blood
31	chr2:85822000-85823800	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr2:85822200-85823000	Active TSS	Primary B cells from peripheral blood	blood
33	chr2:85822200-85823000	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr2:85822200-85823200	Active TSS	Primary T cells from cord blood	blood
35	chr2:85822200-85823200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:85822200-85823200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:85822200-85823200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr2:85822200-85823400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:85822200-85823400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:85822200-85823400	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr2:85822200-85823400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr2:85822200-85823400	Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr2:85822200-85823400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr2:85822200-85823400	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr2:85822200-85823400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr2:85822200-85823400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:85822200-85823400	Active TSS	Brain Angular Gyrus	brain
48	chr2:85822200-85823400	Active TSS	Brain Anterior Caudate	brain
49	chr2:85822200-85823400	Active TSS	Brain Hippocampus Middle	brain
50	chr2:85822200-85823400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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