Variant report

Variant	rs73482268
Chromosome Location	chr11:65121780-65121781
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	MXI1	chr11:65121189-65122872	IMR90	lung:	n/a	n/a
2	REST	chr11:65121655-65122095	HepG2	liver:	n/a	chr11:65121781-65121788 chr11:65121781-65121790 chr11:65121786-65121795 chr11:65121781-65121801
3	POLR2A	chr11:65121226-65122056	GM12891	blood:	n/a	n/a
4	MAZ	chr11:65121509-65122915	IMR90	lung:	n/a	chr11:65121789-65121798
5	POLR2A	chr11:65121485-65122088	U87	brain:	n/a	n/a
6	YY1	chr11:65121703-65122294	SK-N-SH_RA	brain:	n/a	chr11:65122246-65122260 chr11:65122237-65122251 chr11:65122070-65122079 chr11:65122178-65122189 chr11:65122039-65122053
7	REST	chr11:65121504-65122120	SK-N-SH	brain:	n/a	chr11:65121781-65121788 chr11:65121570-65121583 chr11:65121781-65121790 chr11:65121786-65121795 chr11:65121781-65121801
8	REST	chr11:65121437-65122150	PANC-1	pancreas:	n/a	chr11:65121781-65121788 chr11:65121570-65121583 chr11:65121781-65121790 chr11:65121786-65121795 chr11:65121781-65121801
9	POLR2A	chr11:65121295-65122416	HUVEC	blood vessel:	n/a	n/a
10	CTCF	chr11:65121720-65121870	HCPEpiC	choroid plexus:	n/a	n/a
11	YY1	chr11:65121489-65122746	K562	blood:	n/a	chr11:65122246-65122260 chr11:65122237-65122251 chr11:65122070-65122079 chr11:65122178-65122189 chr11:65122039-65122053
12	REST	chr11:65121272-65122344	ECC-1	luminal epithelium:	n/a	chr11:65121781-65121788 chr11:65121570-65121583 chr11:65121781-65121790 chr11:65121786-65121795 chr11:65121781-65121801
13	BCL3	chr11:65120892-65122213	A549	lung:	n/a	chr11:65121786-65121795 chr11:65122176-65122189
14	REST	chr11:65121176-65122544	PFSK-1	brain:	n/a	chr11:65122364-65122377 chr11:65121781-65121788 chr11:65121570-65121583 chr11:65122361-65122374 chr11:65121781-65121790 chr11:65121786-65121795 chr11:65121781-65121801 chr11:65122396-65122409
15	REST	chr11:65121288-65122079	H1-hESC	embryonic stem cell:	n/a	chr11:65121781-65121788 chr11:65121570-65121583 chr11:65121781-65121790 chr11:65121786-65121795 chr11:65121781-65121801
16	MTA3	chr11:65121338-65122206	GM12878	blood:	n/a	n/a
17	HA-E2F1	chr11:65121625-65122671	MCF-7	breast:	n/a	chr11:65122556-65122568 chr11:65122070-65122079 chr11:65122554-65122569 chr11:65122246-65122255
18	MAZ	chr11:65121693-65123309	K562	blood:	n/a	chr11:65121789-65121798
19	REST	chr11:65121223-65122281	PFSK-1	brain:	n/a	chr11:65121781-65121788 chr11:65121570-65121583 chr11:65121781-65121790 chr11:65121786-65121795 chr11:65121781-65121801
20	REST	chr11:65121163-65122340	U87	brain:	n/a	chr11:65121781-65121788 chr11:65121570-65121583 chr11:65121781-65121790 chr11:65121786-65121795 chr11:65121781-65121801
21	REST	chr11:65121530-65122166	HCT-116	colon:	n/a	chr11:65121781-65121788 chr11:65121570-65121583 chr11:65121781-65121790 chr11:65121786-65121795 chr11:65121781-65121801
22	SP1	chr11:65121694-65122266	H1-hESC	embryonic stem cell:	n/a	chr11:65122171-65122183 chr11:65122047-65122061 chr11:65122069-65122078 chr11:65122040-65122054 chr11:65122069-65122079 chr11:65122172-65122181 chr11:65122069-65122078 chr11:65122068-65122079 chr11:65122039-65122051 chr11:65122046-65122058 chr11:65122068-65122080 chr11:65122070-65122079 chr11:65122069-65122079 chr11:65122046-65122057 chr11:65122069-65122083 chr11:65122173-65122182 chr11:65122068-65122080 chr11:65122173-65122182 chr11:65122171-65122183
23	POLR2A	chr11:65120865-65122522	K562	blood:	n/a	n/a
24	JUND	chr11:65121712-65122414	A549	lung:	n/a	n/a
25	ZBTB7A	chr11:65121721-65122952	ECC-1	luminal epithelium:	n/a	n/a
26	REST	chr11:65121529-65122102	HL-60	blood:	n/a	chr11:65121781-65121788 chr11:65121570-65121583 chr11:65121781-65121790 chr11:65121786-65121795 chr11:65121781-65121801
27	MBD4	chr11:65121620-65122061	HepG2	liver:	n/a	n/a
28	MAX	chr11:65121626-65122266	NB4	blood:	n/a	chr11:65121789-65121798
29	REST	chr11:65121104-65122295	A549	lung:	n/a	chr11:65121781-65121788 chr11:65121570-65121583 chr11:65121781-65121790 chr11:65121786-65121795 chr11:65121781-65121801
30	POLR2A	chr11:65121706-65122420	GM12878	blood:	n/a	n/a
31	ELF1	chr11:65121739-65122422	MCF-7	breast:	n/a	chr11:65122099-65122112 chr11:65122181-65122193
32	NR2F2	chr11:65121719-65122919	MCF-7	breast:	n/a	n/a
33	POLR2A	chr11:65120860-65122586	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr11:65121222-65122733	Hela-S3	cervix:	n/a	n/a
35	SIN3AK20	chr11:65121432-65121963	H1-hESC	embryonic stem cell:	n/a	n/a
36	NR2F2	chr11:65121616-65122216	K562	blood:	n/a	n/a
37	TEAD4	chr11:65121721-65122371	H1-hESC	embryonic stem cell:	n/a	n/a
38	ZNF143	chr11:65121624-65121949	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chr11:65121721-65122858	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr11:65121762-65122488	A549	lung:	n/a	n/a
41	SP1	chr11:65121612-65122459	HCT-116	colon:	n/a	chr11:65122171-65122183 chr11:65122047-65122061 chr11:65122069-65122078 chr11:65122040-65122054 chr11:65122388-65122402 chr11:65122069-65122079 chr11:65122172-65122181 chr11:65122069-65122078 chr11:65122068-65122079 chr11:65122039-65122051 chr11:65122046-65122058 chr11:65122068-65122080 chr11:65122070-65122079 chr11:65122069-65122079 chr11:65122046-65122057 chr11:65122341-65122354 chr11:65122069-65122083 chr11:65122173-65122182 chr11:65122068-65122080 chr11:65122173-65122182 chr11:65122171-65122183
42	REST	chr11:65120981-65123810	H1-neurons	neurons:	n/a	chr11:65122364-65122377 chr11:65121781-65121788 chr11:65121570-65121583 chr11:65120984-65121002 chr11:65122975-65122984 chr11:65122361-65122374 chr11:65121781-65121790 chr11:65122821-65122834 chr11:65122584-65122597 chr11:65121786-65121795 chr11:65121781-65121801 chr11:65122396-65122409 chr11:65123254-65123267
43	MXI1	chr11:65121674-65122790	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:65120810-65122496	PANC-1	pancreas:	n/a	n/a
45	POLR2A	chr11:65121759-65122464	HCT-116	colon:	n/a	n/a
46	POLR2A	chr11:65121520-65122088	U87	brain:	n/a	n/a
47	CREB1	chr11:65121516-65122258	H1-hESC	embryonic stem cell:	n/a	n/a
48	MYC	chr11:65121746-65121824	HUVEC	blood vessel:	n/a	chr11:65121789-65121798
49	REST	chr11:65121336-65122275	MCF-7	breast:	n/a	chr11:65121781-65121788 chr11:65121570-65121583 chr11:65121781-65121790 chr11:65121786-65121795 chr11:65121781-65121801
50	ZNF143	chr11:65121730-65122129	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65082018..65083571-chr11:65121331..65123313,2	MCF-7	breast:
2	chr11:65099781..65103974-chr11:65120675..65126515,7	MCF-7	breast:
3	chr11:65110991..65113816-chr11:65120865..65125095,4	MCF-7	breast:
4	chr11:65119888..65122132-chr11:65123050..65125503,3	K562	blood:
5	chr11:65105171..65109589-chr11:65119360..65123181,4	K562	blood:
6	chr11:65045328..65049022-chr11:65119140..65122878,4	MCF-7	breast:
7	chr11:65084600..65086404-chr11:65120200..65124254,3	MCF-7	breast:
8	chr11:65116402..65157784-chr11:65261420..65278410,154	K562	blood:
9	chr11:65120584..65123151-chr11:65148447..65152021,3	K562	blood:
10	chr11:65106450..65111070-chr11:65119360..65123401,6	K562	blood:
11	chr11:65121664..65123613-chr11:65147869..65150112,2	MCF-7	breast:
12	chr11:65099718..65102956-chr11:65121267..65125924,4	MCF-7	breast:
13	chr11:64971476..64974012-chr11:65120745..65123474,2	K562	blood:
14	chr1:202776745..202779308-chr11:65120833..65122777,2	MCF-7	breast:

Variant related genes	Relation type
TIGD3	TF binding region
ENSG00000162241	Chromatin interaction
ENSG00000117139	Chromatin interaction
ENSG00000149798	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000133884	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000014138	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1152621	1.00[EUR][1000 genomes]
rs11823327	1.00[EUR][1000 genomes]
rs11826426	1.00[EUR][1000 genomes]
rs11826954	1.00[EUR][1000 genomes]
rs1194339	1.00[EUR][1000 genomes]
rs17146805	1.00[EUR][1000 genomes]
rs1784102	1.00[EUR][1000 genomes]
rs1784221	1.00[EUR][1000 genomes]
rs1939938	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2307266	1.00[EUR][1000 genomes]
rs34286323	1.00[EUR][1000 genomes]
rs4149823	1.00[EUR][1000 genomes]
rs4149824	1.00[EUR][1000 genomes]
rs4149828	1.00[EUR][1000 genomes]
rs4149835	1.00[EUR][1000 genomes]
rs4149839	1.00[EUR][1000 genomes]
rs4647581	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647583	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647585	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4647598	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58771438	1.00[EUR][1000 genomes]
rs59598510	1.00[EUR][1000 genomes]
rs59646878	1.00[EUR][1000 genomes]
rs60315122	1.00[EUR][1000 genomes]
rs61072220	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61502141	1.00[EUR][1000 genomes]
rs73482220	1.00[EUR][1000 genomes]
rs73482248	1.00[EUR][1000 genomes]
rs73482250	1.00[EUR][1000 genomes]
rs73482254	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482257	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73482938	1.00[EUR][1000 genomes]
rs73482957	1.00[EUR][1000 genomes]
rs73482959	1.00[EUR][1000 genomes]
rs73482962	1.00[EUR][1000 genomes]
rs73482972	1.00[EUR][1000 genomes]
rs73482975	1.00[EUR][1000 genomes]
rs73484340	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73484344	1.00[EUR][1000 genomes]
rs73484345	1.00[EUR][1000 genomes]
rs73484944	1.00[EUR][1000 genomes]
rs73484950	1.00[EUR][1000 genomes]
rs73484954	1.00[EUR][1000 genomes]
rs73484963	1.00[EUR][1000 genomes]
rs73484971	1.00[EUR][1000 genomes]
rs73484972	1.00[EUR][1000 genomes]
rs73484981	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv832190	chr11:64978144-65127613	Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
4	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' 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	984 gene(s)	inside rSNPs	diseases
5	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
6	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65114600-65121800	Weak transcription	Small Intestine	intestine
2	chr11:65119800-65121800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:65120400-65121800	Weak transcription	Aorta	Aorta
4	chr11:65120400-65122200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr11:65120800-65121800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:65121000-65122000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
7	chr11:65121000-65123400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr11:65121200-65121800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:65121200-65121800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr11:65121200-65121800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr11:65121200-65121800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:65121200-65121800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr11:65121200-65121800	Flanking Active TSS	Brain Anterior Caudate	brain
14	chr11:65121200-65121800	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr11:65121200-65121800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr11:65121200-65121800	Flanking Active TSS	Fetal Kidney	kidney
17	chr11:65121200-65121800	Enhancers	Gastric	stomach
18	chr11:65121200-65121800	Enhancers	Lung	lung
19	chr11:65121200-65121800	Enhancers	Psoas Muscle	Psoas
20	chr11:65121200-65121800	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr11:65121200-65122000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:65121200-65122000	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr11:65121200-65122000	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr11:65121200-65122200	Enhancers	Spleen	Spleen
25	chr11:65121200-65122600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr11:65121200-65122600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr11:65121200-65123000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr11:65121400-65121800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:65121400-65121800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:65121400-65121800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr11:65121400-65121800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr11:65121400-65121800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:65121400-65121800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr11:65121400-65121800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:65121400-65121800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr11:65121400-65121800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr11:65121400-65121800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr11:65121400-65121800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr11:65121400-65121800	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr11:65121400-65121800	Flanking Active TSS	Esophagus	oesophagus
41	chr11:65121400-65121800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr11:65121400-65121800	Flanking Active TSS	Fetal Lung	lung
43	chr11:65121400-65121800	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr11:65121400-65121800	Flanking Active TSS	Fetal Stomach	stomach
45	chr11:65121400-65121800	Flanking Active TSS	Pancreas	Pancrea
46	chr11:65121400-65121800	Flanking Active TSS	Stomach Mucosa	stomach
47	chr11:65121400-65121800	Flanking Active TSS	Thymus	Thymus
48	chr11:65121400-65121800	Flanking Active TSS	HSMMtube	muscle
49	chr11:65121400-65121800	Flanking Active TSS	NHLF	lung
50	chr11:65121400-65121800	Flanking Active TSS	Osteobl	bone

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