Variant report

Variant	rs73782154
Chromosome Location	chr6:150260281-150260282
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	POLR2A	chr6:150259842-150260886	H1-neurons	neurons:	n/a	n/a
2	POU2F2	chr6:150259634-150260290	GM12878	blood:	n/a	n/a
3	ESRRA	chr6:150259409-150261022	GM12878	blood:	n/a	n/a
4	MAX	chr6:150259494-150260357	MCF-7	breast:	n/a	n/a
5	STAT5A	chr6:150259607-150260650	GM12878	blood:	n/a	chr6:150260046-150260057 chr6:150260395-150260403
6	EP300	chr6:150259897-150260370	GM12878	blood:	n/a	n/a
7	RELA	chr6:150259888-150260347	GM10847	blood:	n/a	n/a
8	MTA3	chr6:150259775-150260314	GM12878	blood:	n/a	n/a
9	EP300	chr6:150259723-150260391	GM12878	blood:	n/a	n/a
10	RELA	chr6:150259874-150260309	GM18505	blood:	n/a	n/a
11	FOXM1	chr6:150259807-150260381	GM12878	blood:	n/a	n/a
12	SP1	chr6:150259854-150260342	GM12878	blood:	n/a	chr6:150260201-150260210
13	NFATC1	chr6:150259834-150260298	GM12878	blood:	n/a	n/a
14	MTA3	chr6:150259483-150260474	GM12878	blood:	n/a	n/a
15	IRF4	chr6:150259824-150260307	GM12878	blood:	n/a	n/a
16	TCF3	chr6:150259487-150260386	GM12878	blood:	n/a	chr6:150260307-150260320
17	PAX5	chr6:150259724-150260282	GM12878	blood:	n/a	n/a
18	ZEB1	chr6:150260019-150260410	GM12878	blood:	n/a	chr6:150260305-150260316 chr6:150260311-150260319 chr6:150260050-150260058
19	PML	chr6:150259565-150260502	GM12878	blood:	n/a	n/a
20	POLR2A	chr6:150259567-150260354	GM12892	blood:	n/a	n/a
21	RELA	chr6:150259779-150260326	GM19193	blood:	n/a	n/a
22	NFIC	chr6:150260105-150260559	ECC-1	luminal epithelium:	n/a	n/a
23	ZNF143	chr6:150259756-150260374	GM12878	blood:	n/a	n/a
24	POLR2A	chr6:150259780-150260553	GM12878	blood:	n/a	n/a
25	RELA	chr6:150259786-150260329	GM12878	blood:	n/a	n/a
26	ATF2	chr6:150259804-150260315	GM12878	blood:	n/a	n/a
27	TCF12	chr6:150259996-150260304	GM12878	blood:	n/a	n/a
28	MXI1	chr6:150259664-150260350	GM12878	blood:	n/a	n/a
29	POLR2A	chr6:150259843-150260583	H1-neurons	neurons:	n/a	n/a
30	STAT1	chr6:150259816-150260284	GM12878	blood:	n/a	chr6:150260046-150260057
31	EP300	chr6:150259648-150260398	GM12878	blood:	n/a	n/a
32	CHD2	chr6:150259732-150260318	GM12878	blood:	n/a	n/a
33	YY1	chr6:150259758-150260308	GM12878	blood:	n/a	n/a
34	SUZ12	chr6:150259426-150261085	NT2-D1	testis:	n/a	n/a
35	EP300	chr6:150259887-150260320	GM12878	blood:	n/a	n/a
36	CEBPB	chr6:150259875-150260421	GM12878	blood:	n/a	n/a
37	ZEB1	chr6:150260117-150260294	GM12878	blood:	n/a	n/a
38	MAZ	chr6:150259724-150260346	GM12878	blood:	n/a	n/a
39	MAX	chr6:150259610-150260406	GM12878	blood:	n/a	n/a
40	STAT5A	chr6:150259853-150260302	GM12878	blood:	n/a	chr6:150260046-150260057
41	BCLAF1	chr6:150259802-150260312	GM12878	blood:	n/a	n/a
42	NFIC	chr6:150259886-150260308	GM12878	blood:	n/a	n/a
43	SP1	chr6:150259623-150260348	GM12878	blood:	n/a	chr6:150259674-150259688 chr6:150260201-150260210
44	BHLHE40	chr6:150259646-150260401	GM12878	blood:	n/a	chr6:150259658-150259674
45	SUZ12	chr6:150259414-150260894	H1-hESC	embryonic stem cell:	n/a	n/a
46	NFIC	chr6:150259606-150260364	GM12878	blood:	n/a	n/a
47	IRF4	chr6:150259855-150260308	GM12878	blood:	n/a	n/a
48	NFIC	chr6:150260025-150260697	ECC-1	luminal epithelium:	n/a	n/a
49	TCF12	chr6:150259863-150260344	GM12878	blood:	n/a	n/a
50	NFATC1	chr6:150259906-150260324	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:150258514..150260378-chr6:150337573..150339969,2	MCF-7	breast:
2	chr6:150255655..150257664-chr6:150259479..150262477,4	K562	blood:
3	chr6:149846576..149848106-chr6:150258402..150260712,2	K562	blood:
4	chr6:150255165..150257260-chr6:150258635..150261924,3	MCF-7	breast:
5	chr6:150254783..150257862-chr6:150259479..150262603,4	K562	blood:

Variant related genes	Relation type
ULBP2	TF binding region
ENSG00000216621	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11961510	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11961527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11963771	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11968728	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4394226	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4518509	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs470779	0.85[AMR][1000 genomes]
rs55906906	1.00[EUR][1000 genomes]
rs55923313	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56228548	1.00[EUR][1000 genomes]
rs57907635	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61034772	1.00[EUR][1000 genomes]
rs6557197	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6918946	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6930105	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73779704	1.00[EUR][1000 genomes]
rs73779705	1.00[EUR][1000 genomes]
rs73782155	0.85[AMR][1000 genomes]
rs73782157	1.00[EUR][1000 genomes]
rs73782159	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73782166	1.00[EUR][1000 genomes]
rs73782167	1.00[EUR][1000 genomes]
rs73782170	1.00[EUR][1000 genomes]
rs7756662	1.00[EUR][1000 genomes]
rs7766021	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7770995	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886764	chr6:150114745-150393683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv517022	chr6:150145001-150426272	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv886765	chr6:150198491-150288722	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1817805	chr6:150209592-150268708	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	esv3332714	chr6:150259037-150275045	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150259400-150260400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:150259400-150260400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
3	chr6:150259400-150260400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
6	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
7	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
8	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
9	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
10	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
16	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
17	chr6:150259400-150260400	Bivalent Enhancer	Fetal Heart	heart
18	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
19	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
20	chr6:150259400-150260400	Enhancers	Spleen	Spleen
21	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	HepG2	liver
22	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
23	chr6:150259400-150260400	Flanking Bivalent TSS/Enh	Osteobl	bone
24	chr6:150259400-150260600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
25	chr6:150259400-150260600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:150259400-150260800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
27	chr6:150259400-150260800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
28	chr6:150259400-150260800	Bivalent Enhancer	Fetal Lung	lung
29	chr6:150259600-150260400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr6:150259600-150260400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
31	chr6:150259600-150260400	Flanking Bivalent TSS/Enh	Primary T helper naive cells from peripheral blood	blood
32	chr6:150259600-150260400	Flanking Bivalent TSS/Enh	Primary T killer memory cells from peripheral blood	blood
33	chr6:150259600-150260400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr6:150259600-150260400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr6:150259600-150260400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr6:150259600-150260400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:150259600-150260400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
38	chr6:150259600-150260400	Bivalent Enhancer	Fetal Brain Male	brain
39	chr6:150259600-150260400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
40	chr6:150259600-150260400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
41	chr6:150259600-150260400	Flanking Active TSS	Right Ventricle	heart
42	chr6:150259600-150260400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
43	chr6:150259600-150260400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
44	chr6:150259600-150260400	Flanking Bivalent TSS/Enh	Thymus	Thymus
45	chr6:150259600-150260400	Flanking Bivalent TSS/Enh	NHEK	skin
46	chr6:150259800-150260400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr6:150259800-150260400	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
48	chr6:150259800-150260400	Flanking Bivalent TSS/Enh	Primary T helper memory cells from peripheral blood 1	blood
49	chr6:150259800-150260400	Bivalent/Poised TSS	Brain Angular Gyrus	brain
50	chr6:150259800-150260400	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon

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