Variant report

Variant	rs7107409
Chromosome Location	chr11:76492195-76492196
allele	C/T
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	POLR2A	chr11:76491593-76492537	Hela-S3	cervix:	n/a	n/a
3	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
4	CTCF	chr11:76492160-76492310	NHDF-neo	bronchial:	n/a	n/a
5	POLR2A	chr11:76491728-76497876	HepG2	liver:	n/a	n/a
6	MBD4	chr11:76491912-76492751	HepG2	liver:	n/a	n/a
7	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
8	FOXA2	chr11:76492133-76492641	HepG2	liver:	n/a	n/a
9	MYBL2	chr11:76491995-76492799	HepG2	liver:	n/a	n/a
10	POLR2A	chr11:76492188-76492750	HepG2	liver:	n/a	n/a
11	EP300	chr11:76492055-76492765	HepG2	liver:	n/a	n/a
12	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
13	POLR2A	chr11:76492096-76492232	A549	lung:	n/a	n/a
14	MAZ	chr11:76492136-76492904	HepG2	liver:	n/a	n/a
15	CTCF	chr11:76492194-76492418	HepG2	liver:	n/a	n/a
16	BCL3	chr11:76492119-76493603	A549	lung:	n/a	chr11:76492874-76492881
17	POLR2A	chr11:76492168-76492665	HepG2	liver:	n/a	n/a
18	POLR2A	chr11:76492041-76492973	HepG2	liver:	n/a	n/a
19	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
20	HEY1	chr11:76492084-76492798	HepG2	liver:	n/a	n/a
21	TBP	chr11:76492149-76492945	HepG2	liver:	n/a	n/a
22	FOXA1	chr11:76491971-76492640	HepG2	liver:	n/a	n/a
23	TCF12	chr11:76491928-76492633	SK-N-SH	brain:	n/a	chr11:76492154-76492161
24	TEAD4	chr11:76491974-76492769	HepG2	liver:	n/a	n/a
25	TCF12	chr11:76491706-76499377	A549	lung:	n/a	chr11:76495264-76495274 chr11:76499211-76499221 chr11:76492154-76492161 chr11:76499346-76499356 chr11:76492802-76492812
26	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
27	MAX	chr11:76491914-76492752	HepG2	liver:	n/a	n/a
28	SP1	chr11:76492060-76492701	HepG2	liver:	n/a	chr11:76492310-76492322 chr11:76492307-76492321 chr11:76492300-76492313 chr11:76492311-76492320
29	RCOR1	chr11:76492071-76492498	HepG2	liver:	n/a	n/a
30	NFIC	chr11:76491905-76492605	HepG2	liver:	n/a	n/a
31	RXRA	chr11:76492143-76492558	HepG2	liver:	n/a	chr11:76492394-76492407 chr11:76492394-76492407
32	MYBL2	chr11:76491903-76493029	HepG2	liver:	n/a	n/a
33	MAFK	chr11:76492077-76492259	HepG2	liver:	n/a	n/a
34	ARID3A	chr11:76492118-76492264	HepG2	liver:	n/a	n/a
35	EP300	chr11:76492095-76492573	HepG2	liver:	n/a	n/a
36	MXI1	chr11:76491990-76492570	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	chr11:76491420..76493588-chr17:73774728..73777185,2	MCF-7	breast:

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

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10160660	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10160769	0.99[EUR][1000 genomes]
rs10437754	0.99[EUR][1000 genomes]
rs10793194	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10793195	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10899278	0.97[EUR][1000 genomes]
rs10899279	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10899280	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10899281	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10899282	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10899283	0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11236924	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11236936	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12273016	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282785	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12290350	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12788118	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1440977	0.99[EUR][1000 genomes]
rs1440978	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1440979	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1440980	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1465900	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1837679	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1837680	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1866843	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3758711	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4309181	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56228827	0.99[EUR][1000 genomes]
rs737185	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7933092	0.98[EUR][1000 genomes]
rs7942337	0.97[EUR][1000 genomes]
rs7942368	0.96[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76482800-76492400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:76485600-76492200	Weak transcription	Ovary	ovary
3	chr11:76486000-76492200	Weak transcription	Liver	Liver
4	chr11:76487800-76492200	Weak transcription	NHEK	skin
5	chr11:76488000-76492200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:76488400-76493400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr11:76488600-76492200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:76490400-76493400	Weak transcription	HSMMtube	muscle
9	chr11:76490600-76492400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:76491000-76492400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:76491200-76493000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:76491200-76493400	Enhancers	Placenta	Placenta
13	chr11:76491200-76493600	Enhancers	Fetal Brain Male	brain
14	chr11:76491200-76493600	Enhancers	Fetal Heart	heart
15	chr11:76491400-76492600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:76491400-76493200	Enhancers	Fetal Stomach	stomach
17	chr11:76491400-76493400	Enhancers	Esophagus	oesophagus
18	chr11:76491600-76492200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
19	chr11:76491600-76492400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:76491600-76492600	Enhancers	Fetal Intestine Small	intestine
21	chr11:76491600-76493200	Flanking Active TSS	HepG2	liver
22	chr11:76491600-76493400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:76491600-76493400	Enhancers	Fetal Lung	lung
24	chr11:76491600-76494000	Enhancers	Spleen	Spleen
25	chr11:76491800-76492400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr11:76491800-76492400	Enhancers	Duodenum Mucosa	Duodenum
27	chr11:76491800-76492400	Enhancers	Fetal Kidney	kidney
28	chr11:76491800-76492400	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr11:76491800-76492600	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr11:76491800-76492600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr11:76491800-76492600	Enhancers	Stomach Smooth Muscle	stomach
32	chr11:76491800-76492800	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr11:76491800-76492800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:76491800-76492800	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr11:76491800-76492800	Enhancers	HMEC	breast
36	chr11:76491800-76493000	Enhancers	Fetal Muscle Leg	muscle
37	chr11:76491800-76493000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr11:76491800-76493000	Enhancers	NHDF-Ad	bronchial
39	chr11:76491800-76493200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr11:76491800-76493200	Enhancers	Right Atrium	heart
41	chr11:76491800-76493400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr11:76491800-76493400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:76491800-76493400	Enhancers	Fetal Intestine Large	intestine
44	chr11:76491800-76493800	Enhancers	Left Ventricle	heart
45	chr11:76492000-76492200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:76492000-76492200	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:76492000-76492200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:76492000-76492200	Enhancers	Colonic Mucosa	Colon
49	chr11:76492000-76492200	Genic enhancers	A549	lung
50	chr11:76492000-76492200	Enhancers	Hela-S3	cervix

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