Variant report

Variant	rs7579553
Chromosome Location	chr2:96875297-96875298
allele	A/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	RCOR1	chr2:96875218-96875957	K562	blood:	n/a	n/a
2	POLR2A	chr2:96872978-96875681	PBDE	blood:	n/a	n/a
3	TBL1XR1	chr2:96875094-96875363	K562	blood:	n/a	n/a
4	MAFK	chr2:96875113-96875408	HepG2	liver:	n/a	chr2:96875275-96875290
5	JUND	chr2:96875217-96876035	K562	blood:	n/a	n/a
6	MXI1	chr2:96872609-96875419	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr2:96875172-96876125	K562	blood:	n/a	n/a
8	POLR2A	chr2:96872958-96875645	GM12891	blood:	n/a	n/a
9	CHD1	chr2:96873188-96875319	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:96873106-96876052	HepG2	liver:	n/a	n/a
11	MAFK	chr2:96873097-96875467	K562	blood:	n/a	chr2:96873251-96873268 chr2:96875275-96875290
12	POLR2A	chr2:96873042-96875666	K562	blood:	n/a	n/a
13	POLR2A	chr2:96875107-96876181	H1-hESC	embryonic stem cell:	n/a	n/a
14	IRF1	chr2:96873371-96875641	K562	blood:	n/a	chr2:96873679-96873693 chr2:96873679-96873689 chr2:96873675-96873689 chr2:96873677-96873688 chr2:96874809-96874823 chr2:96874920-96874934
15	CUX1	chr2:96874220-96875539	K562	blood:	n/a	n/a
16	MAFK	chr2:96875238-96875497	HepG2	liver:	n/a	chr2:96875275-96875290
17	NR2F2	chr2:96873734-96875608	K562	blood:	n/a	n/a
18	MYC	chr2:96873312-96875341	K562	blood:	n/a	chr2:96874919-96874929
19	POLR2A	chr2:96873506-96875438	Raji	blood:	n/a	n/a
20	POLR2A	chr2:96872909-96876017	GM12892	blood:	n/a	n/a
21	MAFF	chr2:96875126-96875465	K562	blood:	n/a	n/a
22	POLR2A	chr2:96875142-96876114	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:96875231-96876234	HepG2	liver:	n/a	n/a
24	POLR2A	chr2:96873102-96875533	K562	blood:	n/a	n/a
25	POLR2A	chr2:96873637-96875853	K562	blood:	n/a	n/a
26	MAZ	chr2:96872975-96876143	K562	blood:	n/a	chr2:96874919-96874929
27	POLR2A	chr2:96873609-96875536	HepG2	liver:	n/a	n/a
28	IRF1	chr2:96873325-96875518	K562	blood:	n/a	chr2:96873679-96873693 chr2:96873679-96873689 chr2:96873675-96873689 chr2:96873677-96873688 chr2:96874809-96874823 chr2:96874920-96874934
29	JUN	chr2:96872738-96875973	K562	blood:	n/a	chr2:96873428-96873442 chr2:96874814-96874823
30	POLR2A	chr2:96875187-96876082	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr2:96875258-96876289	K562	blood:	n/a	n/a
32	HCFC1	chr2:96872726-96875528	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr2:96873179-96875422	MCF10A-Er-Src	breast:	n/a	n/a
34	GATA1	chr2:96873279-96875567	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:96872884..96875870-chr2:96999913..97003204,4	MCF-7	breast:
2	chr2:96873368..96875940-chr2:96925082..96928161,5	MCF-7	breast:
3	chr2:96656872..96660081-chr2:96874473..96876452,3	MCF-7	breast:
4	chr2:96872598..96876007-chr2:96924059..96928423,13	MCF-7	breast:
5	chr2:96873130..96877842-chr2:96924423..96928437,5	K562	blood:
6	chr2:96678269..96680437-chr2:96873411..96875898,2	MCF-7	breast:
7	chr2:96856180..96863246-chr2:96870668..96875373,10	MCF-7	breast:
8	chr2:96874739..96877160-chr2:97224414..97226899,2	K562	blood:
9	chr2:96808739..96811929-chr2:96872960..96875920,3	MCF-7	breast:
10	chr2:96868913..96876440-chr2:96928017..96934530,23	K562	blood:
11	chr2:96874731..96877568-chr2:96889613..96892545,3	K562	blood:
12	chr2:96870309..96876262-chr2:96928720..96933891,16	MCF-7	breast:
13	chr2:96871739..96877156-chr2:96928674..96935050,17	K562	blood:
14	chr2:96874014..96875585-chr2:96990690..96992909,2	K562	blood:
15	chr2:96871572..96876906-chr2:96928916..96935631,15	MCF-7	breast:
16	chr2:96801466..96803641-chr2:96873708..96877456,3	MCF-7	breast:
17	chr2:96874408..96876271-chr2:96925161..96927177,2	K562	blood:
18	chr2:96873349..96876341-chr2:97001503..97003498,3	K562	blood:
19	chr2:96873776..96875796-chr2:96905403..96907728,3	MCF-7	breast:
20	chr2:96872802..96875592-chr2:97201053..97203640,2	K562	blood:
21	chr17:57913629..57916404-chr2:96873395..96876100,2	MCF-7	breast:

Variant related genes	Relation type
STARD7	TF binding region
ENSG00000144021	Chromatin interaction
ENSG00000196843	Chromatin interaction
ENSG00000198885	Chromatin interaction
ENSG00000135956	Chromatin interaction
ENSG00000174501	Chromatin interaction
ENSG00000121152	Chromatin interaction
ENSG00000231584	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000084090	Chromatin interaction
ENSG00000204685	Chromatin interaction
ENSG00000188886	Chromatin interaction
ENSG00000158050	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11551400	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11886999	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2016759	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57251156	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61697794	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6725867	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6725872	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	esv3435047	chr2:96836850-96890437	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv834305	chr2:96848898-97019476	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription 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 target site	55 gene(s)	inside rSNPs	diseases
9	nsv874679	chr2:96860971-97184160	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96870000-96875400	Active TSS	Psoas Muscle	Psoas
2	chr2:96870400-96875400	Active TSS	Right Ventricle	heart
3	chr2:96871400-96875400	Active TSS	NHLF	lung
4	chr2:96872600-96875400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:96873000-96875400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr2:96873000-96875600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:96873200-96875400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:96873200-96875400	Active TSS	A549	lung
9	chr2:96873200-96875400	Active TSS	NHDF-Ad	bronchial
10	chr2:96873400-96875400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:96873400-96875400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:96873400-96875400	Active TSS	Osteobl	bone
13	chr2:96873400-96875600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:96873400-96875600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:96873400-96875800	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr2:96873400-96876000	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr2:96873400-96876200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr2:96874600-96875400	Active TSS	Right Atrium	heart
19	chr2:96874800-96875400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
20	chr2:96874800-96875400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr2:96874800-96875400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr2:96874800-96875400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr2:96874800-96875400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
24	chr2:96874800-96875400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:96874800-96875600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr2:96875000-96875400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr2:96875000-96875400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr2:96875000-96875400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr2:96875000-96875400	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr2:96875000-96875400	Enhancers	Stomach Mucosa	stomach
31	chr2:96875000-96875400	Flanking Active TSS	Thymus	Thymus
32	chr2:96875000-96875400	Flanking Active TSS	NH-A	brain
33	chr2:96875000-96875600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr2:96875000-96875600	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr2:96875000-96875600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr2:96875000-96875600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr2:96875000-96875600	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr2:96875000-96875600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr2:96875000-96875600	Flanking Active TSS	Fetal Lung	lung
40	chr2:96875000-96875600	Flanking Active TSS	Rectal Smooth Muscle	rectum
41	chr2:96875000-96875600	Flanking Active TSS	HUVEC	blood vessel
42	chr2:96875000-96875800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:96875000-96875800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:96875000-96875800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr2:96875000-96875800	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr2:96875000-96875800	Flanking Active TSS	Fetal Brain Female	brain
47	chr2:96875000-96875800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr2:96875000-96875800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr2:96875000-96875800	Flanking Active TSS	HepG2	liver
50	chr2:96875000-96876000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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