Variant report

Variant	rs7577677
Chromosome Location	chr2:234590616-234590617
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:234590590-234590640	T-47D	breast:	n/a
2	chr2:234590590-234590640	HRE	kidney:	n/a
3	chr2:234590590-234590640	PFSK-1	brain:	n/a
4	chr2:234590590-234590640	U87	brain:	n/a
5	chr2:234590590-234590640	SK-N-MC	brain:	n/a
6	chr2:234590590-234590640	HEK293	kidney:	embryo
7	chr2:234590590-234590640	GM19239	blood:	n/a
8	chr2:234590590-234590640	HCPEpiC	choroid plexus:	n/a
9	chr2:234590590-234590640	HNPCEpiC	eye:	n/a
10	chr2:234590590-234590640	GM12878	blood:	n/a
11	chr2:234590590-234590640	LNCaP	prostate:	n/a
12	chr2:234590590-234590640	BJ	skin:	n/a
13	chr2:234590590-234590640	AG04450	lung:	fetal
14	chr2:234590590-234590640	IMR90	lung:	fetal
15	chr2:234590590-234590640	AoSMC	blood vessel:	n/a
16	chr2:234590590-234590640	NH-A	brain:	n/a
17	chr2:234590590-234590640	Hela-S3	cervix:	n/a
18	chr2:234590590-234590640	GM06990	blood:	n/a
19	chr2:234590590-234590640	HCM	heart:	n/a
20	chr2:234590590-234590640	AG09319	gingival:	n/a
21	chr2:234590590-234590640	HCT-116	colon:	n/a
22	chr2:234590590-234590640	SK-N-SH	brain:	n/a
23	chr2:234590590-234590640	NHBE	bronchial:	n/a
24	chr2:234590590-234590640	AG09309	skin:	n/a
25	chr2:234590590-234590640	Caco-2	colon:	n/a
26	chr2:234590590-234590640	HRPEpiC	eye:	n/a
27	chr2:234590590-234590640	MCF10A-Er-Src	breast:	n/a
28	chr2:234590590-234590640	HEEpiC	esophagus:	n/a
29	chr2:234590590-234590640	HCF	heart:	n/a
30	chr2:234590590-234590640	GM12891	blood:	n/a
31	chr2:234590590-234590640	HAEpiC	amniotic membrane:	n/a
32	chr2:234590590-234590640	HMEC	breast:	n/a
33	chr2:234590590-234590640	Hepatocyte	liver:	n/a
34	chr2:234590590-234590640	PrEC	prostate:	n/a
35	chr2:234590590-234590640	NT2-D1	testis:	n/a
36	chr2:234590590-234590640	SK-N-SH_RA	brain:	n/a
37	chr2:234590590-234590640	HepG2	liver:	n/a
38	chr2:234590590-234590640	ProgFib	skin:	n/a
39	chr2:234590590-234590640	GM12892	blood:	n/a
40	chr2:234590590-234590640	HL-60	blood:	n/a
41	chr2:234590590-234590640	CMK	blood:	n/a
42	chr2:234590590-234590640	NHDF-neo	bronchial:	n/a
43	chr2:234590590-234590640	AG10803	skin:	n/a
44	chr2:234590590-234590640	K562	blood:	n/a
45	chr2:234590590-234590640	MCF-7	breast:	n/a
46	chr2:234590590-234590640	BE2_C	brain:	n/a
47	chr2:234590590-234590640	A549	lung:	n/a
48	chr2:234590590-234590640	HIPEpiC	eye:	n/a
49	chr2:234590590-234590640	HRCEpiC	kidney:	n/a
50	chr2:234590590-234590640	SKMC	muscle:	n/a

No data

Variant related genes	Relation type
UGT1A7	CpG island

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10167119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10168155	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10168333	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10168416	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10171367	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10173355	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10175809	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10178992	0.88[CEU][hapmap]
rs10179094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10180090	0.82[EUR][1000 genomes]
rs10189426	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10197460	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10202865	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10203266	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10445704	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1105879	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1105880	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs11673726	0.88[CEU][hapmap]
rs11680450	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11692021	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11692664	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11888459	0.88[CEU][hapmap]
rs11891311	0.88[CEU][hapmap]
rs11902131	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12615708	0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12623271	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13002774	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13015720	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1875263	0.88[CEU][hapmap]
rs1983023	0.96[CEU][hapmap]
rs2018985	0.96[CEU][hapmap]
rs2070959	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs35984508	0.86[ASN][1000 genomes]
rs3806598	0.87[ASN][1000 genomes]
rs4261716	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4338954	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4347832	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4530361	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4553819	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs45615240	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6724485	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6725478	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs6736508	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6736743	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6753320	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6753569	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6759892	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7349250	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7563561	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7564935	0.88[CEU][hapmap]
rs7571915	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7583278	0.96[CEU][hapmap]
rs7586110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592281	0.86[ASN][1000 genomes]
rs7604115	0.88[CEU][hapmap]
rs7608175	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs869283	0.96[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1010936	chr2:234549011-234640221	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv3340677	chr2:234580879-234591324	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv979185	chr2:234590426-234591548	Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
7	nsv876016	chr2:234590527-234601669	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234559800-234592800	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr2:234588000-234593000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:234588600-234597000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr2:234589000-234590800	Enhancers	Liver	Liver
5	chr2:234589400-234590800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:234589800-234593000	Weak transcription	A549	lung
7	chr2:234590000-234597800	Weak transcription	Colonic Mucosa	Colon
8	chr2:234590200-234591800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr2:234590600-234590800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:234590600-234590800	Enhancers	Esophagus	oesophagus

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