Variant report

Variant	rs35808061
Chromosome Location	chr11:57547000-57547001
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:123)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:123 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr11:57546733-57547314	T-47D	breast:	n/a	n/a
2	TAF1	chr11:57546833-57547106	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr11:57546960-57547110	NHLF	lung:	n/a	n/a
4	POLR2A	chr11:57546691-57547374	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr11:57546920-57547070	BJ	skin:	n/a	n/a
6	MXI1	chr11:57546884-57547295	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr11:57544867-57547756	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr11:57546827-57547131	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:57546635-57547386	PANC-1	pancreas:	n/a	n/a
10	RAD21	chr11:57546844-57547132	HepG2	liver:	n/a	chr11:57547043-57547050
11	GATA3	chr11:57546788-57547334	T-47D	breast:	n/a	n/a
12	CTCF	chr11:57546900-57547050	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr11:57546920-57547070	HPF	lung:	n/a	n/a
14	TEAD4	chr11:57546741-57547284	ECC-1	luminal epithelium:	n/a	n/a
15	MBD4	chr11:57545446-57547182	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:57545258-57547384	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr11:57546862-57547242	HepG2	liver:	n/a	n/a
18	CTCF	chr11:57546920-57547070	HPAF	blood vessel:	n/a	n/a
19	POLR2A	chr11:57546962-57547049	MCF-7	breast:	n/a	n/a
20	CTCF	chr11:57546900-57547050	HRE	kidney:	n/a	n/a
21	EP300	chr11:57546801-57547204	T-47D	breast:	n/a	n/a
22	GATA3	chr11:57546839-57547283	MCF-7	breast:	n/a	n/a
23	CTCF	chr11:57546920-57547070	AG09319	gingival:	n/a	n/a
24	TEAD4	chr11:57545162-57547397	HepG2	liver:	n/a	n/a
25	CTCF	chr11:57546980-57547130	HUVEC	blood vessel:	n/a	n/a
26	CTCF	chr11:57546900-57547050	SAEC	small airway:	n/a	n/a
27	TCF7L2	chr11:57546894-57547198	MCF-7	breast:	n/a	n/a
28	CTCF	chr11:57546960-57547110	HepG2	liver:	n/a	n/a
29	STAT3	chr11:57546947-57547191	MCF10A-Er-Src	breast:	n/a	n/a
30	RAD21	chr11:57546814-57547192	SK-N-SH_RA	brain:	n/a	chr11:57547043-57547050
31	EP300	chr11:57545331-57547318	A549	lung:	n/a	chr11:57545349-57545359 chr11:57546229-57546243
32	FOXA2	chr11:57546805-57547199	HepG2	liver:	n/a	n/a
33	ESR1	chr11:57546865-57547123	T-47D	breast:	n/a	n/a
34	TEAD4	chr11:57546770-57547239	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr11:57546940-57547090	HAc	cerebellar:	n/a	n/a
36	CTCF	chr11:57546980-57547130	SK-N-SH_RA	brain:	n/a	n/a
37	CHD1	chr11:57545377-57547184	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr11:57546884-57547139	HCT-116	colon:	n/a	n/a
39	CTCF	chr11:57546900-57547050	AG09319	gingival:	n/a	n/a
40	CTCF	chr11:57546960-57547110	AG09309	skin:	n/a	n/a
41	CTCF	chr11:57546920-57547070	HRE	kidney:	n/a	n/a
42	FOXA1	chr11:57546686-57547174	T-47D	breast:	n/a	n/a
43	CTCF	chr11:57546880-57547030	HA-sp	spinal cord:	n/a	n/a
44	JUND	chr11:57545963-57547195	H1-hESC	embryonic stem cell:	n/a	chr11:57547162-57547174 chr11:57546555-57546564
45	CTCF	chr11:57546920-57547070	AG04449	skin:	n/a	n/a
46	TFAP2C	chr11:57546787-57547256	Hela-S3	cervix:	n/a	chr11:57547016-57547031
47	HDAC2	chr11:57546764-57547268	HepG2	liver:	n/a	n/a
48	MAZ	chr11:57546910-57547060	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr11:57546937-57547091	Hela-S3	cervix:	n/a	n/a
50	NR3C1	chr11:57546819-57547278	A549	lung:	n/a	chr11:57547064-57547071

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57510237..57513047-chr11:57544366..57548086,3	MCF-7	breast:
2	chr11:57527377..57534826-chr11:57541861..57548775,13	MCF-7	breast:
3	chr11:57517755..57521184-chr11:57545638..57549281,5	MCF-7	breast:
4	chr11:57509911..57512073-chr11:57545879..57548404,2	MCF-7	breast:
5	chr11:57529135..57533999-chr11:57544009..57550841,10	MCF-7	breast:
6	chr11:57422766..57425060-chr11:57546530..57548326,2	MCF-7	breast:
7	chr11:57545694..57547445-chr11:57547779..57550427,3	MCF-7	breast:
8	chr11:57545406..57547871-chr11:57550321..57552770,3	MCF-7	breast:
9	chr11:57540348..57543144-chr11:57545793..57547381,2	K562	blood:
10	chr11:57545030..57547537-chr11:57565376..57568397,5	MCF-7	breast:
11	chr11:57531061..57532831-chr11:57545293..57547269,2	K562	blood:
12	chr11:57545587..57547830-chr11:57553519..57555695,2	MCF-7	breast:
13	chr11:57517889..57520334-chr11:57544692..57547242,2	MCF-7	breast:
14	chr11:57544135..57547056-chr11:57548257..57551353,3	K562	blood:
15	chr11:57545891..57547434-chr11:57557245..57559839,2	K562	blood:

No data

Variant related genes	Relation type
CTNND1	TF binding region
ENSG00000233436	Chromatin interaction
ENSG00000198561	Chromatin interaction
ENSG00000172409	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10792112	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896633	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10896636	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10896647	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11229113	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229116	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11229130	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11229131	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11229148	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11570190	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11601320	0.87[EUR][1000 genomes]
rs11601449	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602109	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11604325	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604333	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11605731	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606396	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11607056	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12146541	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362166	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12785533	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12790196	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12804972	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12805841	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12807250	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12807357	0.84[EUR][1000 genomes]
rs1647405	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17455520	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2509808	0.83[EUR][1000 genomes]
rs2847308	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2926656	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3781885	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4827	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs488769	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs499188	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs527528	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs543725	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs547891	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs576859	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs589914	0.84[EUR][1000 genomes]
rs644883	0.82[EUR][1000 genomes]
rs6591434	0.83[EUR][1000 genomes]
rs674094	0.80[EUR][1000 genomes]
rs682503	0.87[EUR][1000 genomes]
rs708228	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7116341	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117205	0.87[EUR][1000 genomes]
rs7117878	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7121169	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7129727	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs71484461	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71484468	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7932091	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7936998	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7938083	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7949841	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9420	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv508633	chr11:57419585-57560045	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv327	chr11:57532641-57550746	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35808061	MED19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57538400-57549800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:57539600-57552000	Enhancers	Placenta	Placenta
3	chr11:57541600-57550400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:57541800-57549000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:57542400-57548800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr11:57542600-57549200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:57542600-57550600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:57543000-57547200	Flanking Active TSS	Rectal Smooth Muscle	rectum
9	chr11:57543000-57547400	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr11:57543000-57547800	Enhancers	Fetal Thymus	thymus
11	chr11:57543000-57551200	Enhancers	Pancreas	Pancrea
12	chr11:57543400-57549000	Enhancers	Primary T cells from cord blood	blood
13	chr11:57543600-57547400	Enhancers	Esophagus	oesophagus
14	chr11:57543800-57548600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr11:57544400-57547200	Enhancers	Fetal Muscle Trunk	muscle
16	chr11:57544400-57550000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr11:57544600-57547000	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr11:57544600-57547200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr11:57544600-57547600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr11:57544800-57547000	Enhancers	Thymus	Thymus
21	chr11:57544800-57547200	Enhancers	Dnd41	blood
22	chr11:57544800-57547400	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr11:57545000-57547000	Flanking Active TSS	Liver	Liver
24	chr11:57545000-57547200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:57545000-57547200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr11:57545000-57547200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr11:57545000-57547200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:57545000-57547400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr11:57545000-57547600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:57545200-57547200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr11:57545200-57547200	Flanking Active TSS	Hela-S3	cervix
32	chr11:57545200-57547400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:57545200-57547600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:57545200-57551600	Weak transcription	Gastric	stomach
35	chr11:57545200-57555400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:57545400-57547200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:57545400-57547200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:57545400-57547200	Flanking Active TSS	Brain Substantia Nigra	brain
39	chr11:57545400-57547200	Flanking Active TSS	NHEK	skin
40	chr11:57545400-57547400	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr11:57545400-57548000	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr11:57545600-57547000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr11:57545600-57547000	Flanking Active TSS	Brain Germinal Matrix	brain
44	chr11:57545600-57547200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr11:57545600-57547600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:57545800-57547000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr11:57545800-57547200	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr11:57545800-57547400	Active TSS	Right Atrium	heart
49	chr11:57545800-57547600	Weak transcription	Lung	lung
50	chr11:57546200-57547000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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