Variant report

Variant	rs6741598
Chromosome Location	chr2:173939775-173939776
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	CHD1	chr2:173939685-173944195	IMR90	lung:	n/a	chr2:173940491-173940501 chr2:173940771-173940781 chr2:173940428-173940438 chr2:173940352-173940362
2	POLR2A	chr2:173939730-173945222	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr2:173937409-173945617	MCF10A-Er-Src	breast:	n/a	n/a
4	ZNF263	chr2:173939768-173941499	HEK293-T-REx	kidney:	n/a	n/a
5	MXI1	chr2:173939609-173943667	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr2:173939601-173942224	PANC-1	pancreas:	n/a	n/a
7	CTCF	chr2:173939595-173941069	A549	lung:	n/a	chr2:173941032-173941045

No.	Distal block	Cell Line	Cell type
1	chr2:173939442..173941828-chr2:174218952..174221644,4	K562	blood:
2	chr2:173939516..173941828-chr2:174218952..174221644,5	K562	blood:
3	chr2:173939725..173941702-chr2:174219358..174221001,2	MCF-7	breast:
4	chr2:173907898..173920360-chr2:173936226..173946823,30	MCF-7	breast:

Variant related genes	Relation type
ENSG00000091436	TF binding region
ENSG00000236391	Chromatin interaction
ENSG00000091428	Chromatin interaction
ENSG00000144354	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11676760	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12693018	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13030567	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13031358	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13032024	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1345005	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1548045	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1866635	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2119125	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4146109	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972396	1.00[AMR][1000 genomes]
rs4972398	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4972537	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433393	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433394	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6433396	1.00[AMR][1000 genomes]
rs6433397	1.00[AMR][1000 genomes]
rs6713429	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6739869	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011724	chr2:173916482-174231908	Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv834460	chr2:173919464-174085288	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv3371931	chr2:173938506-173943004	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv3410281	chr2:173939731-173942579	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173934000-173940000	Weak transcription	Pancreas	Pancrea
2	chr2:173935600-173939800	Weak transcription	Fetal Lung	lung
3	chr2:173936000-173940000	Weak transcription	Right Atrium	heart
4	chr2:173937800-173940000	Weak transcription	Aorta	Aorta
5	chr2:173938400-173940000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:173938600-173940000	Enhancers	Left Ventricle	heart
7	chr2:173938600-173940000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr2:173938800-173940000	Weak transcription	Liver	Liver
9	chr2:173938800-173940200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:173938800-173940400	Enhancers	Fetal Heart	heart
11	chr2:173939000-173939800	Weak transcription	K562	blood
12	chr2:173939000-173940000	Weak transcription	Ovary	ovary
13	chr2:173939400-173939800	Enhancers	GM12878-XiMat	blood
14	chr2:173939400-173940000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:173939400-173940000	Enhancers	Colon Smooth Muscle	Colon
16	chr2:173939600-173939800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr2:173939600-173939800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:173939600-173939800	Enhancers	A549	lung
19	chr2:173939600-173940000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:173939600-173940000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:173939600-173940000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:173939600-173940000	Enhancers	Brain Hippocampus Middle	brain
23	chr2:173939600-173940000	Enhancers	Right Ventricle	heart
24	chr2:173939600-173940000	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:173939600-173940000	Bivalent Enhancer	HepG2	liver
26	chr2:173939600-173940200	Enhancers	Psoas Muscle	Psoas
27	chr2:173939600-173940200	Enhancers	NHDF-Ad	bronchial
28	chr2:173939600-173940400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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