Variant report

Variant	rs34909318
Chromosome Location	chr11:76492445-76492446
allele	-/C
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	HDAC2	chr11:76492079-76492644	HepG2	liver:	n/a	n/a
2	MYC	chr11:76492341-76492476	HepG2	liver:	n/a	n/a
3	HEY1	chr11:76492302-76492742	HepG2	liver:	n/a	n/a
4	POLR2A	chr11:76491593-76492537	Hela-S3	cervix:	n/a	n/a
5	HNF4A	chr11:76492138-76492601	HepG2	liver:	n/a	chr11:76492394-76492407 chr11:76492395-76492408 chr11:76492394-76492408 chr11:76492395-76492407 chr11:76492393-76492408 chr11:76492395-76492407 chr11:76492393-76492408 chr11:76492395-76492403 chr11:76492394-76492408 chr11:76492394-76492407
6	SP1	chr11:76492384-76493608	A549	lung:	n/a	chr11:76492748-76492760
7	REST	chr11:76492332-76493005	A549	lung:	n/a	n/a
8	POLR2A	chr11:76491728-76497876	HepG2	liver:	n/a	n/a
9	MBD4	chr11:76491912-76492751	HepG2	liver:	n/a	n/a
10	HNF4G	chr11:76492013-76492748	HepG2	liver:	n/a	chr11:76492394-76492407 chr11:76492392-76492407 chr11:76492395-76492408 chr11:76492394-76492408 chr11:76492395-76492407 chr11:76492393-76492408 chr11:76492395-76492407 chr11:76492395-76492403 chr11:76492394-76492408 chr11:76492394-76492407
11	FOXA2	chr11:76492133-76492641	HepG2	liver:	n/a	n/a
12	POLR2A	chr11:76492289-76492693	HepG2	liver:	n/a	n/a
13	CTCF	chr11:76492400-76492550	Caco-2	colon:	n/a	n/a
14	MYBL2	chr11:76491995-76492799	HepG2	liver:	n/a	n/a
15	POLR2A	chr11:76492188-76492750	HepG2	liver:	n/a	n/a
16	POLR2A	chr11:76492240-76493224	A549	lung:	n/a	n/a
17	EP300	chr11:76492055-76492765	HepG2	liver:	n/a	n/a
18	MAX	chr11:76491870-76500240	A549	lung:	n/a	chr11:76495789-76495799 chr11:76494160-76494170 chr11:76494949-76494959 chr11:76499004-76499014 chr11:76494703-76494719 chr11:76500087-76500096
19	POLR2A	chr11:76492313-76492539	A549	lung:	n/a	n/a
20	CHD2	chr11:76492283-76492711	HepG2	liver:	n/a	n/a
21	FOXA1	chr11:76492238-76492654	HepG2	liver:	n/a	n/a
22	MAZ	chr11:76492136-76492904	HepG2	liver:	n/a	n/a
23	BCL3	chr11:76492119-76493603	A549	lung:	n/a	chr11:76492874-76492881
24	POLR2A	chr11:76492348-76496118	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr11:76492168-76492665	HepG2	liver:	n/a	n/a
26	SMARCC1	chr11:76492379-76494864	Hela-S3	cervix:	n/a	n/a
27	SMARCC2	chr11:76492369-76494126	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:76492041-76492973	HepG2	liver:	n/a	n/a
29	HNF4A	chr11:76492138-76492547	HepG2	liver:	n/a	chr11:76492394-76492407 chr11:76492395-76492408 chr11:76492394-76492408 chr11:76492395-76492407 chr11:76492393-76492408 chr11:76492395-76492407 chr11:76492393-76492408 chr11:76492395-76492403 chr11:76492394-76492408 chr11:76492394-76492407
30	HEY1	chr11:76492084-76492798	HepG2	liver:	n/a	n/a
31	RFX5	chr11:76492313-76492567	HepG2	liver:	n/a	n/a
32	TBP	chr11:76492149-76492945	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:76492260-76493234	A549	lung:	n/a	n/a
34	FOXA1	chr11:76491971-76492640	HepG2	liver:	n/a	n/a
35	TCF12	chr11:76491928-76492633	SK-N-SH	brain:	n/a	chr11:76492154-76492161
36	TEAD4	chr11:76491974-76492769	HepG2	liver:	n/a	n/a
37	TCF12	chr11:76491706-76499377	A549	lung:	n/a	chr11:76495264-76495274 chr11:76499211-76499221 chr11:76492154-76492161 chr11:76499346-76499356 chr11:76492802-76492812
38	HNF4G	chr11:76492093-76492691	HepG2	liver:	n/a	chr11:76492394-76492407 chr11:76492392-76492407 chr11:76492395-76492408 chr11:76492394-76492408 chr11:76492395-76492407 chr11:76492393-76492408 chr11:76492395-76492407 chr11:76492395-76492403 chr11:76492394-76492408 chr11:76492394-76492407
39	POLR2A	chr11:76492344-76492503	A549	lung:	n/a	n/a
40	CTCF	chr11:76492320-76492470	GM12872	blood:	n/a	n/a
41	MAX	chr11:76491914-76492752	HepG2	liver:	n/a	n/a
42	SP1	chr11:76492060-76492701	HepG2	liver:	n/a	chr11:76492310-76492322 chr11:76492307-76492321 chr11:76492300-76492313 chr11:76492311-76492320
43	CEBPB	chr11:76492282-76492695	HepG2	liver:	n/a	n/a
44	RCOR1	chr11:76492071-76492498	HepG2	liver:	n/a	n/a
45	NFIC	chr11:76491905-76492605	HepG2	liver:	n/a	n/a
46	SMC3	chr11:76492232-76492518	HepG2	liver:	n/a	n/a
47	RXRA	chr11:76492143-76492558	HepG2	liver:	n/a	chr11:76492394-76492407 chr11:76492394-76492407
48	MAX	chr11:76492339-76492495	HepG2	liver:	n/a	n/a
49	ZBTB7A	chr11:76492214-76492500	HepG2	liver:	n/a	n/a
50	POLR2A	chr11:76492219-76493054	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:76489897..76492683-chr11:76518337..76520113,2	MCF-7	breast:
2	chr11:76490271..76492919-chr11:76570565..76573287,2	MCF-7	breast:
3	chr11:76475599..76479568-chr11:76492254..76495485,3	K562	blood:
4	chr11:76491420..76493588-chr17:73774728..73777185,2	MCF-7	breast:
5	chr11:76492395..76495773-chr11:76745021..76748563,5	MCF-7	breast:

Variant related genes	Relation type
TSKU	TF binding region
ENSG00000078124	Chromatin interaction
ENSG00000254632	Chromatin interaction
ENSG00000198488	Chromatin interaction
ENSG00000132475	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1149596	0.84[EUR][1000 genomes]
rs1149597	0.84[EUR][1000 genomes]
rs1149599	0.84[EUR][1000 genomes]
rs1149605	0.85[EUR][1000 genomes]
rs1149606	1.00[EUR][1000 genomes]
rs1149608	0.93[EUR][1000 genomes]
rs1149609	1.00[EUR][1000 genomes]
rs1149610	1.00[EUR][1000 genomes]
rs1149612	0.89[EUR][1000 genomes]
rs1149614	0.96[EUR][1000 genomes]
rs1149615	0.96[EUR][1000 genomes]
rs1149616	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1149617	0.94[EUR][1000 genomes]
rs1149618	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1149619	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1224955	1.00[EUR][1000 genomes]
rs3740776	0.91[EUR][1000 genomes]
rs3740777	1.00[EUR][1000 genomes]
rs881930	0.84[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	nsv897931	chr11:76489673-76540708	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76488400-76493400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr11:76490400-76493400	Weak transcription	HSMMtube	muscle
3	chr11:76491200-76493000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:76491200-76493400	Enhancers	Placenta	Placenta
5	chr11:76491200-76493600	Enhancers	Fetal Brain Male	brain
6	chr11:76491200-76493600	Enhancers	Fetal Heart	heart
7	chr11:76491400-76492600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr11:76491400-76493200	Enhancers	Fetal Stomach	stomach
9	chr11:76491400-76493400	Enhancers	Esophagus	oesophagus
10	chr11:76491600-76492600	Enhancers	Fetal Intestine Small	intestine
11	chr11:76491600-76493200	Flanking Active TSS	HepG2	liver
12	chr11:76491600-76493400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr11:76491600-76493400	Enhancers	Fetal Lung	lung
14	chr11:76491600-76494000	Enhancers	Spleen	Spleen
15	chr11:76491800-76492600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr11:76491800-76492600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:76491800-76492600	Enhancers	Stomach Smooth Muscle	stomach
18	chr11:76491800-76492800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr11:76491800-76492800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:76491800-76492800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr11:76491800-76492800	Enhancers	HMEC	breast
22	chr11:76491800-76493000	Enhancers	Fetal Muscle Leg	muscle
23	chr11:76491800-76493000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr11:76491800-76493000	Enhancers	NHDF-Ad	bronchial
25	chr11:76491800-76493200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr11:76491800-76493200	Enhancers	Right Atrium	heart
27	chr11:76491800-76493400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr11:76491800-76493400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:76491800-76493400	Enhancers	Fetal Intestine Large	intestine
30	chr11:76491800-76493800	Enhancers	Left Ventricle	heart
31	chr11:76492000-76492600	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr11:76492000-76492800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:76492000-76493000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr11:76492000-76493000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr11:76492000-76493000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr11:76492000-76493000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:76492000-76493000	Enhancers	Fetal Brain Female	brain
38	chr11:76492000-76493200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:76492000-76493400	Enhancers	Fetal Muscle Trunk	muscle
40	chr11:76492000-76493800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr11:76492000-76494200	Flanking Active TSS	Adipose Nuclei	Adipose
42	chr11:76492200-76492600	Flanking Active TSS	Colonic Mucosa	Colon
43	chr11:76492200-76492800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr11:76492200-76492800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:76492200-76492800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr11:76492200-76492800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:76492200-76492800	Enhancers	Lung	lung
48	chr11:76492200-76493000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr11:76492200-76493000	Enhancers	Liver	Liver
50	chr11:76492200-76493200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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