Variant report

Variant	rs7570831
Chromosome Location	chr2:97274188-97274189
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	JUND	chr2:97274175-97274697	A549	lung:	n/a	chr2:97274452-97274464 chr2:97274450-97274461 chr2:97274454-97274462
2	MXI1	chr2:97274165-97274509	HepG2	liver:	n/a	n/a
3	MAX	chr2:97274080-97275132	A549	lung:	n/a	chr2:97274453-97274462
4	FOSL2	chr2:97274147-97274654	A549	lung:	n/a	chr2:97274452-97274464 chr2:97274450-97274461 chr2:97274454-97274462
5	POLR2A	chr2:97274112-97274403	K562	blood:	n/a	n/a
6	NR2F2	chr2:97274118-97274665	HepG2	liver:	n/a	n/a
7	MAX	chr2:97273942-97275132	A549	lung:	n/a	chr2:97274453-97274462

No.	Distal block	Cell Line	Cell type
1	chr2:97273041..97275257-chr2:97295864..97297799,2	MCF-7	breast:
2	chr2:97266880..97268980-chr2:97273453..97275991,2	K562	blood:
3	chr2:97270035..97271619-chr2:97273152..97275931,2	K562	blood:
4	chr2:97272967..97275754-chr2:97426557..97429522,3	K562	blood:
5	chr2:97271896..97274610-chr2:97303507..97305087,2	K562	blood:
6	chr2:97268720..97275117-chr2:97424272..97429412,8	MCF-7	breast:

Variant related genes	Relation type
KANSL3	TF binding region
ENSG00000158158	Chromatin interaction
ENSG00000114982	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1047634	1.00[EUR][1000 genomes]
rs11886360	1.00[EUR][1000 genomes]
rs11892821	1.00[EUR][1000 genomes]
rs2314649	1.00[EUR][1000 genomes]
rs34013660	1.00[EUR][1000 genomes]
rs6576977	1.00[EUR][1000 genomes]
rs6576985	1.00[EUR][1000 genomes]
rs6576988	1.00[EUR][1000 genomes]
rs6707008	1.00[EUR][1000 genomes]
rs6713046	1.00[EUR][1000 genomes]
rs6746421	1.00[EUR][1000 genomes]
rs6748214	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs6748234	1.00[EUR][1000 genomes]
rs7569178	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7580104	1.00[EUR][1000 genomes]
rs7587149	1.00[EUR][1000 genomes]
rs7593340	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	esv3460902	chr2:97138421-97459342	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	esv3460903	chr2:97138421-97459342	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	nsv999871	chr2:97157196-97407711	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv535829	chr2:97157196-97407711	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	nsv469775	chr2:97240926-97412491	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
12	nsv482586	chr2:97240926-97412491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
13	nsv834306	chr2:97241115-97412938	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 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	chr2:97248400-97283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:97256200-97282400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:97256600-97274200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:97256600-97283800	Strong transcription	Placenta	Placenta
5	chr2:97256600-97287000	Strong transcription	Dnd41	blood
6	chr2:97256800-97274200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:97257000-97279600	Strong transcription	Fetal Lung	lung
8	chr2:97257400-97274200	Strong transcription	HSMMtube	muscle
9	chr2:97257400-97279600	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:97257400-97279600	Strong transcription	Primary hematopoietic stem cells	blood
11	chr2:97257400-97279600	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:97257400-97279800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:97257400-97279800	Strong transcription	Stomach Smooth Muscle	stomach
14	chr2:97257400-97280000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:97257400-97280800	Strong transcription	Fetal Muscle Leg	muscle
16	chr2:97257400-97282400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr2:97257600-97280800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr2:97257600-97286400	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:97257800-97279400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr2:97257800-97279400	Strong transcription	Brain Germinal Matrix	brain
21	chr2:97257800-97279600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr2:97257800-97286800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:97258000-97279400	Strong transcription	Ovary	ovary
24	chr2:97258000-97279400	Strong transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:97258000-97283200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr2:97258200-97283200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:97258200-97286400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:97258200-97302800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:97258600-97279800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr2:97258800-97279600	Strong transcription	NHLF	lung
31	chr2:97258800-97280000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:97261200-97279600	Strong transcription	Primary T cells from cord blood	blood
33	chr2:97261200-97281000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:97261200-97301600	Strong transcription	Fetal Thymus	thymus
35	chr2:97261400-97279800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:97261400-97282400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:97261600-97283000	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:97262200-97280600	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr2:97263600-97279800	Strong transcription	Fetal Brain Female	brain
40	chr2:97263600-97279800	Strong transcription	Fetal Kidney	kidney
41	chr2:97263800-97279600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:97264800-97279600	Strong transcription	Rectal Smooth Muscle	rectum
43	chr2:97265000-97274400	Strong transcription	NH-A	brain
44	chr2:97265200-97282600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:97265600-97279000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr2:97265600-97279400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:97265600-97280400	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr2:97265800-97280400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:97266200-97274200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:97266200-97275400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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