Variant report

Variant	rs6706494
Chromosome Location	chr2:31256018-31256019
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:31255880-31256215	SK-N-SH_RA	brain:	n/a	n/a
2	RAD21	chr2:31255850-31256367	MCF-7	breast:	n/a	n/a
3	CTCF	chr2:31255922-31256221	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr2:31255992-31256225	SK-N-SH_RA	brain:	n/a	n/a
5	RAD21	chr2:31255854-31256199	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr2:31256000-31256150	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr2:31256000-31256150	GM12874	blood:	n/a	n/a
8	RAD21	chr2:31255905-31256279	H1-hESC	embryonic stem cell:	n/a	n/a
9	RAD21	chr2:31255910-31256148	HepG2	liver:	n/a	n/a
10	CTCF	chr2:31255980-31256130	MCF-7	breast:	n/a	n/a
11	RAD21	chr2:31255843-31256425	MCF-7	breast:	n/a	n/a
12	CTCF	chr2:31255980-31256130	HEK293	kidney:	n/a	n/a
13	RAD21	chr2:31255343-31256349	SK-N-SH	brain:	n/a	n/a
14	CTCF	chr2:31255982-31256146	GM12878	blood:	n/a	n/a
15	CTCF	chr2:31255988-31256234	MCF-7	breast:	n/a	n/a
16	CTCF	chr2:31255884-31256247	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr2:31255954-31256120	K562	blood:	n/a	n/a
18	CTCF	chr2:31255781-31256296	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr2:31255994-31256142	HepG2	liver:	n/a	n/a
20	CTCF	chr2:31256000-31256150	GM12871	blood:	n/a	n/a
21	CTCF	chr2:31255960-31256110	GM12878	blood:	n/a	n/a
22	CTCF	chr2:31255980-31256130	BE2_C	brain:	n/a	n/a
23	CTCF	chr2:31256000-31256150	HMEC	breast:	n/a	n/a
24	CTCF	chr2:31256000-31256150	AG09319	gingival:	n/a	n/a
25	CTCF	chr2:31255980-31256130	GM12864	blood:	n/a	n/a
26	CTCF	chr2:31256000-31256150	NB4	blood:	n/a	n/a
27	CTCF	chr2:31255940-31256090	RPTEC	kidney:	n/a	n/a
28	CTCF	chr2:31256000-31256150	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr2:31255940-31256090	GM12875	blood:	n/a	n/a
30	RAD21	chr2:31255886-31256271	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr2:31255960-31256110	HRE	kidney:	n/a	n/a
32	CTCF	chr2:31256000-31256150	GM12875	blood:	n/a	n/a
33	CTCF	chr2:31255960-31256110	NHDF-neo	bronchial:	n/a	n/a
34	USF1	chr2:31255952-31256203	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr2:31255960-31256110	A549	lung:	n/a	n/a
36	CTCF	chr2:31255991-31256216	MCF-7	breast:	n/a	n/a
37	CTCF	chr2:31255999-31256204	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:31256000-31256150	HepG2	liver:	n/a	n/a
39	CTCF	chr2:31255884-31256294	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:31255880-31256030	GM12864	blood:	n/a	n/a
41	USF1	chr2:31255963-31256283	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr2:31255960-31256210	HCT-116	colon:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:31251926..31254609-chr2:31255739..31258107,3	K562	blood:
2	chr2:30936769..30937624-chr2:31255661..31256507,2	MCF-7	breast:
3	chr2:30937011..30937606-chr2:31255684..31256205,2	MCF-7	breast:
4	chr17:59914273..59914887-chr2:31255690..31256200,2	MCF-7	breast:
5	chr2:31084655..31085588-chr2:31255564..31256556,4	MCF-7	breast:
6	chr2:31106161..31106770-chr2:31255665..31256504,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000216093	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11886050	1.00[EUR][1000 genomes]
rs60562251	1.00[EUR][1000 genomes]
rs60787090	1.00[EUR][1000 genomes]
rs6715908	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6716034	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6726217	0.82[ASW][hapmap];1.00[EUR][1000 genomes]
rs6753235	0.85[AMR][1000 genomes]
rs72854858	0.83[AMR][1000 genomes]
rs72855277	1.00[EUR][1000 genomes]
rs72855294	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72855299	1.00[EUR][1000 genomes]
rs72856704	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72868752	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72868765	1.00[EUR][1000 genomes]
rs7570233	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7575804	0.83[AMR][1000 genomes]
rs7609452	1.00[EUR][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31246400-31261600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:31251400-31270000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:31254200-31256200	Enhancers	Primary B cells from cord blood	blood
4	chr2:31254400-31256200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr2:31254600-31256200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr2:31255800-31256400	Enhancers	HUES64 Cell Line	embryonic stem cell

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