Variant report

Variant	rs35551949
Chromosome Location	chr2:47447796-47447797
allele	AC/GT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47399756..47406251-chr2:47447036..47455846,12	MCF-7	breast:
2	chr2:47447257..47450209-chr2:47450575..47452374,2	K562	blood:
3	chr2:47395269..47398223-chr2:47446895..47449256,2	K562	blood:
4	chr2:47447242..47450213-chr2:47497234..47499703,2	MCF-7	breast:
5	chr2:47441089..47444916-chr2:47445519..47450272,4	K562	blood:
6	chr2:47399370..47405628-chr2:47444779..47450395,9	K562	blood:
7	chr2:47436954..47438640-chr2:47446066..47448832,2	MCF-7	breast:
8	chr2:47443128..47444876-chr2:47447324..47449483,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPCAM-5	chr2:47445239-47448487	NONHSAT070552

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10169873	0.82[EUR][1000 genomes]
rs1039162	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11899830	0.88[ASN][1000 genomes]
rs11899833	0.88[ASN][1000 genomes]
rs13391158	0.90[ASN][1000 genomes]
rs4952877	0.89[ASN][1000 genomes]
rs4953479	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7586186	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs904166	0.90[ASN][1000 genomes]
rs904167	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
5	esv10649	chr2:47429316-47472670	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47438000-47452600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:47442000-47448400	Enhancers	Fetal Intestine Large	intestine
3	chr2:47442200-47448400	Enhancers	Fetal Intestine Small	intestine
4	chr2:47442200-47452400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr2:47442600-47448200	Enhancers	Liver	Liver
6	chr2:47442600-47452800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:47442800-47450200	Weak transcription	Fetal Heart	heart
8	chr2:47443800-47448000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:47444800-47448400	Weak transcription	Hela-S3	cervix
10	chr2:47445800-47451000	Weak transcription	Placenta	Placenta
11	chr2:47445800-47452800	Weak transcription	Fetal Kidney	kidney
12	chr2:47446000-47448200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:47446200-47447800	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:47446400-47448000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:47446800-47449000	Weak transcription	K562	blood
16	chr2:47446800-47451600	Weak transcription	Colonic Mucosa	Colon
17	chr2:47446800-47452200	Weak transcription	Small Intestine	intestine
18	chr2:47447200-47448400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr2:47447200-47448400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:47447200-47455400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:47447400-47448800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:47447400-47452200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr2:47447400-47452400	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:47447600-47448400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:47447600-47449400	Enhancers	Osteobl	bone
26	chr2:47447600-47452200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:47447600-47452400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:47447600-47452400	Enhancers	HSMM	muscle
29	chr2:47447600-47452400	Enhancers	HSMMtube	muscle
30	chr2:47447600-47455000	Enhancers	NHLF	lung

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