Variant report

Variant	rs6765636
Chromosome Location	chr3:143070312-143070313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143070031..143071586-chr3:143073564..143076244,2	K562	blood:
2	chr3:143068671..143071346-chr3:143094512..143096094,2	K562	blood:
3	chr3:143063232..143067878-chr3:143069249..143072270,4	K562	blood:
4	chr3:143032733..143035249-chr3:143069425..143071800,2	K562	blood:

Variant related genes	Relation type
ENSG00000240888	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2352730	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4839628	0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs6414355	0.94[ASN][1000 genomes]
rs7614192	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv877564	chr3:143059952-143116883	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3518531	chr3:143068444-143070888	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	esv3518532	chr3:143068444-143070888	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs6765636	TFDP2	cis	parietal	SCAN
rs6765636	SLC9A9	cis	parietal	SCAN
rs6765636	PLOD2	cis	parietal	SCAN
rs6765636	PLSCR4	cis	parietal	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143063600-143076400	Weak transcription	Brain Anterior Caudate	brain
2	chr3:143064600-143070800	Weak transcription	Ovary	ovary
3	chr3:143068000-143071600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr3:143068000-143072000	Weak transcription	Placenta	Placenta
5	chr3:143068200-143070400	Weak transcription	Primary B cells from cord blood	blood
6	chr3:143068200-143071600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr3:143068200-143071800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:143068200-143078400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:143068200-143091800	Weak transcription	Lung	lung
10	chr3:143068400-143070800	Weak transcription	Fetal Thymus	thymus
11	chr3:143068400-143071200	Weak transcription	Primary hematopoietic stem cells	blood
12	chr3:143068800-143082000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr3:143069000-143070800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr3:143069000-143070800	Weak transcription	Primary T cells from cord blood	blood
15	chr3:143069000-143080800	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr3:143069000-143081600	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr3:143069200-143070800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr3:143069200-143071800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:143069200-143080600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr3:143069600-143072400	Enhancers	Dnd41	blood
21	chr3:143069800-143081200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr3:143070000-143070400	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr3:143070000-143071000	Enhancers	Fetal Kidney	kidney
24	chr3:143070000-143072600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:143070200-143070600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:143070200-143071000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr3:143070200-143088600	Weak transcription	Aorta	Aorta

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