Variant report

Variant	rs7121150
Chromosome Location	chr11:93394383-93394384
allele	G/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	MAZ	chr11:93394374-93395667	IMR90	lung:	n/a	n/a
2	FOXM1	chr11:93394240-93395677	GM12878	blood:	n/a	n/a
3	E2F6	chr11:93394092-93395514	H1-hESC	embryonic stem cell:	n/a	chr11:93394922-93394932 chr11:93394690-93394699 chr11:93394797-93394806
4	RUNX3	chr11:93394360-93395404	GM12878	blood:	n/a	n/a
5	POLR2A	chr11:93394313-93395558	GM12892	blood:	n/a	n/a
6	CBX3	chr11:93394288-93395514	HCT-116	colon:	n/a	n/a
7	ELF1	chr11:93394319-93395361	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:93394307-93395529	SK-N-MC	brain:	n/a	n/a
9	JUN	chr11:93394370-93395923	K562	blood:	n/a	chr11:93394941-93394949
10	POLR2A	chr11:93394340-93395477	GM12878	blood:	n/a	n/a
11	TEAD4	chr11:93394347-93395572	K562	blood:	n/a	n/a
12	POLR2A	chr11:93394337-93395174	PANC-1	pancreas:	n/a	n/a
13	HA-E2F1	chr11:93394198-93395454	MCF-7	breast:	n/a	chr11:93394922-93394932 chr11:93394690-93394699 chr11:93394797-93394806
14	SIN3AK20	chr11:93394339-93395229	MCF-7	breast:	n/a	n/a
15	TEAD4	chr11:93394366-93395406	K562	blood:	n/a	n/a
16	MXI1	chr11:93394312-93395676	IMR90	lung:	n/a	n/a
17	E2F6	chr11:93394154-93395386	K562	blood:	n/a	chr11:93394922-93394932 chr11:93394690-93394699 chr11:93394797-93394806
18	SMARCC1	chr11:93394310-93395522	Hela-S3	cervix:	n/a	chr11:93394940-93394949
19	POLR2A	chr11:93394312-93395606	PFSK-1	brain:	n/a	n/a
20	MAX	chr11:93394289-93395624	HCT-116	colon:	n/a	n/a
21	MXI1	chr11:93394012-93395817	SK-N-SH	brain:	n/a	n/a
22	BCLAF1	chr11:93394328-93394958	K562	blood:	n/a	chr11:93394807-93394816
23	PBX3	chr11:93394357-93395133	SK-N-SH	brain:	n/a	n/a
24	SETDB1	chr11:93394319-93395034	U2OS	brain:	n/a	chr11:93394690-93394699
25	MAX	chr11:93394378-93395502	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr11:93394368-93395366	HepG2	liver:	n/a	n/a
27	REST	chr11:93394284-93395527	H1-neurons	neurons:	n/a	chr11:93394755-93394764
28	POLR2A	chr11:93394378-93395531	HL-60	blood:	n/a	n/a
29	MAX	chr11:93394307-93395505	ECC-1	luminal epithelium:	n/a	n/a
30	CBX3	chr11:93394282-93395710	K562	blood:	n/a	n/a
31	NRF1	chr11:93394374-93395614	SK-N-SH	brain:	n/a	chr11:93394701-93394710 chr11:93394689-93394703 chr11:93394689-93394700 chr11:93394689-93394700 chr11:93394691-93394700 chr11:93394686-93394700 chr11:93395100-93395109 chr11:93394839-93394853
32	TCF12	chr11:93394265-93395285	A549	lung:	n/a	n/a
33	E2F6	chr11:93394285-93395123	A549	lung:	n/a	chr11:93394922-93394932 chr11:93394690-93394699 chr11:93394797-93394806
34	MYBL2	chr11:93394346-93395266	HepG2	liver:	n/a	n/a
35	MAX	chr11:93394290-93395523	HCT-116	colon:	n/a	n/a
36	POLR2A	chr11:93394373-93395549	GM12878	blood:	n/a	n/a
37	HCFC1	chr11:93393737-93397042	Hela-S3	cervix:	n/a	n/a
38	MAX	chr11:93394370-93395512	K562	blood:	n/a	n/a
39	MAX	chr11:93394340-93395565	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:93393142..93395279-chr11:93515864..93518097,3	K562	blood:
2	chr11:93393652..93395603-chr11:93473209..93475607,2	MCF-7	breast:
3	chr11:93393119..93395461-chr11:93422571..93425502,2	K562	blood:
4	chr11:93393010..93396864-chr11:93472820..93475395,3	K562	blood:
5	chr11:93393391..93395168-chr11:93473052..93476024,2	K562	blood:
6	chr11:93392460..93395279-chr11:93515167..93518670,4	K562	blood:

Variant related genes	Relation type
KIAA1731	TF binding region
ENSG00000166004	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000042429	Chromatin interaction
ENSG00000166012	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1011993	1.00[EUR][1000 genomes]
rs10734163	1.00[EUR][1000 genomes]
rs10741470	1.00[EUR][1000 genomes]
rs10741471	1.00[EUR][1000 genomes]
rs10741472	1.00[EUR][1000 genomes]
rs10741473	1.00[EUR][1000 genomes]
rs10765621	1.00[EUR][1000 genomes]
rs10765622	1.00[EUR][1000 genomes]
rs10765624	1.00[EUR][1000 genomes]
rs10765627	1.00[EUR][1000 genomes]
rs10765628	1.00[EUR][1000 genomes]
rs10765629	1.00[EUR][1000 genomes]
rs10765631	1.00[EUR][1000 genomes]
rs10831085	1.00[EUR][1000 genomes]
rs10831086	1.00[EUR][1000 genomes]
rs10831088	1.00[EUR][1000 genomes]
rs11020477	1.00[EUR][1000 genomes]
rs1784203	1.00[EUR][1000 genomes]
rs1944099	1.00[EUR][1000 genomes]
rs1944100	1.00[EUR][1000 genomes]
rs1944101	1.00[EUR][1000 genomes]
rs1944102	1.00[EUR][1000 genomes]
rs1944103	1.00[EUR][1000 genomes]
rs1944106	1.00[EUR][1000 genomes]
rs1954994	1.00[EUR][1000 genomes]
rs2155246	1.00[EUR][1000 genomes]
rs2155248	1.00[EUR][1000 genomes]
rs2186686	1.00[EUR][1000 genomes]
rs2509840	1.00[EUR][1000 genomes]
rs4237560	1.00[EUR][1000 genomes]
rs4303195	1.00[EUR][1000 genomes]
rs4303196	1.00[EUR][1000 genomes]
rs4753095	1.00[EUR][1000 genomes]
rs4753096	1.00[EUR][1000 genomes]
rs4753097	1.00[EUR][1000 genomes]
rs4753098	1.00[EUR][1000 genomes]
rs4753099	1.00[EUR][1000 genomes]
rs4753488	1.00[EUR][1000 genomes]
rs4753489	1.00[EUR][1000 genomes]
rs4753490	1.00[EUR][1000 genomes]
rs4753491	1.00[EUR][1000 genomes]
rs4753495	1.00[EUR][1000 genomes]
rs623510	1.00[EUR][1000 genomes]
rs628916	1.00[EUR][1000 genomes]
rs630648	1.00[EUR][1000 genomes]
rs631116	1.00[EUR][1000 genomes]
rs642984	1.00[EUR][1000 genomes]
rs643924	1.00[EUR][1000 genomes]
rs648162	1.00[EUR][1000 genomes]
rs655279	1.00[EUR][1000 genomes]
rs7127033	1.00[EUR][1000 genomes]
rs7926876	1.00[EUR][1000 genomes]
rs7937523	1.00[EUR][1000 genomes]
rs7939834	1.00[EUR][1000 genomes]
rs7940153	1.00[EUR][1000 genomes]
rs7949850	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 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	chr11:93391800-93394400	Weak transcription	Fetal Brain Male	brain
2	chr11:93392200-93394400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr11:93392400-93394400	Weak transcription	Aorta	Aorta
4	chr11:93393600-93394400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr11:93393600-93394600	Enhancers	HepG2	liver
6	chr11:93393800-93394400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr11:93393800-93394400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:93394000-93394400	Enhancers	Primary B cells from cord blood	blood
9	chr11:93394000-93394400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr11:93394000-93394400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr11:93394000-93394400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:93394000-93394400	Enhancers	Placenta	Placenta
13	chr11:93394000-93394400	Enhancers	K562	blood
14	chr11:93394000-93394400	Enhancers	NHLF	lung
15	chr11:93394000-93394600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:93394000-93394600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr11:93394000-93394600	Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr11:93394000-93394600	Enhancers	Stomach Mucosa	stomach
19	chr11:93394000-93394800	Flanking Active TSS	Dnd41	blood
20	chr11:93394000-93395400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr11:93394000-93395600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:93394000-93395800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:93394200-93394400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr11:93394200-93394400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:93394200-93394400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr11:93394200-93394400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr11:93394200-93394400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:93394200-93394400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:93394200-93394400	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr11:93394200-93394400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr11:93394200-93394400	Enhancers	Fetal Heart	heart
32	chr11:93394200-93394400	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr11:93394200-93394400	Flanking Active TSS	GM12878-XiMat	blood
34	chr11:93394200-93394600	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr11:93394200-93394600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr11:93394200-93394600	Enhancers	Primary hematopoietic stem cells	blood
37	chr11:93394200-93394600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr11:93394200-93394600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:93394200-93394600	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr11:93394200-93394600	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr11:93394200-93394600	Flanking Active TSS	Thymus	Thymus
42	chr11:93394200-93394600	Enhancers	Spleen	Spleen
43	chr11:93394200-93394600	Flanking Active TSS	Hela-S3	cervix
44	chr11:93394200-93394600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr11:93394200-93394800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:93394200-93394800	Flanking Active TSS	Fetal Thymus	thymus
47	chr11:93394200-93395200	Active TSS	Duodenum Mucosa	Duodenum
48	chr11:93394200-93395400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr11:93394200-93395400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:93394200-93395400	Active TSS	Liver	Liver

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