Variant report

Variant	rs61735303
Chromosome Location	chr11:86663296-86663297
allele	A/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	FOXA1	chr11:86663296-86663705	T-47D	breast:	n/a	n/a
2	POLR2A	chr11:86663129-86663300	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr11:86662464-86664601	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr11:86662664-86663793	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr11:86662809-86663679	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:86663254-86663488	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86652072..86654729-chr11:86660498..86663493,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000246523	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17149639	0.90[AMR][1000 genomes]
rs17758742	0.81[AMR][1000 genomes]
rs4943965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944649	1.00[AMR][1000 genomes]
rs57561938	0.81[AMR][1000 genomes]
rs61735304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7106960	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7121504	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86649800-86664600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:86651400-86664200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:86651800-86664800	Weak transcription	Esophagus	oesophagus
4	chr11:86652400-86664000	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:86652400-86664000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:86652800-86664200	Weak transcription	Brain Substantia Nigra	brain
7	chr11:86653200-86664200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:86653200-86665800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:86653400-86665200	Weak transcription	Fetal Heart	heart
10	chr11:86653600-86664000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:86653600-86664000	Weak transcription	Brain Anterior Caudate	brain
12	chr11:86657000-86663400	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
13	chr11:86657600-86665200	Weak transcription	Brain Germinal Matrix	brain
14	chr11:86657600-86665400	Weak transcription	Small Intestine	intestine
15	chr11:86658000-86664000	Weak transcription	K562	blood
16	chr11:86658200-86663600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:86659200-86663400	Weak transcription	NH-A	brain
18	chr11:86660200-86663600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr11:86660200-86665200	Weak transcription	NHDF-Ad	bronchial
20	chr11:86660600-86664200	Transcr. at gene 5' and 3'	HUVEC	blood vessel
21	chr11:86660800-86663400	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
22	chr11:86660800-86664000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:86661000-86663600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:86661200-86664000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:86661400-86663400	Strong transcription	Hela-S3	cervix
26	chr11:86661600-86663400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr11:86661600-86665400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr11:86661800-86663600	Genic enhancers	Spleen	Spleen
29	chr11:86662000-86663400	Weak transcription	Brain Angular Gyrus	brain
30	chr11:86662000-86663400	Weak transcription	Fetal Brain Female	brain
31	chr11:86662000-86663400	Transcr. at gene 5' and 3'	Psoas Muscle	Psoas
32	chr11:86662000-86664000	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr11:86662200-86663400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:86662200-86663400	Transcr. at gene 5' and 3'	Aorta	Aorta
35	chr11:86662200-86663400	Strong transcription	Liver	Liver
36	chr11:86662200-86663400	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
37	chr11:86662200-86663400	Strong transcription	Fetal Intestine Large	intestine
38	chr11:86662200-86663400	Transcr. at gene 5' and 3'	Left Ventricle	heart
39	chr11:86662200-86663400	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
40	chr11:86662200-86663400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
41	chr11:86662200-86663600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr11:86662400-86663400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:86662400-86663400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr11:86662400-86663400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:86662400-86663400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:86662400-86663400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
47	chr11:86662400-86663400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
48	chr11:86662400-86663400	Strong transcription	HSMM	muscle
49	chr11:86662400-86664000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr11:86662600-86663400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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