Variant report

Variant	rs9385883
Chromosome Location	chr6:140173790-140173791
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	SETDB1	chr6:140173581-140173985	U2OS	brain:	n/a	n/a
2	FOXA2	chr6:140173642-140173951	HepG2	liver:	n/a	n/a
3	CEBPB	chr6:140173756-140174128	IMR90	lung:	n/a	n/a
4	POLR2A	chr6:140173569-140174042	IMR90	lung:	n/a	n/a
5	RAD21	chr6:140173461-140174091	IMR90	lung:	n/a	n/a
6	POLR2A	chr6:140173430-140173884	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:140171085..140173859-chr6:140174869..140177839,3	K562	blood:
2	chr6:139694169..139695837-chr6:140173549..140176425,2	K562	blood:

Variant related genes	Relation type
ENSG00000231426	TF binding region
ENSG00000231426	Chromatin interaction
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1022603	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13214155	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2327994	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4345410	0.98[ASN][1000 genomes]
rs4401680	0.98[ASN][1000 genomes]
rs6938814	0.82[ASW][hapmap]
rs7751170	0.98[ASN][1000 genomes]
rs7755382	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7761094	0.98[ASN][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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv830820	chr6:140059279-140255292	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140168400-140174000	Weak transcription	Fetal Lung	lung
2	chr6:140168800-140177000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr6:140169000-140177000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr6:140172200-140175200	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr6:140172200-140178800	Enhancers	Fetal Intestine Small	intestine
6	chr6:140172200-140179000	Enhancers	Fetal Intestine Large	intestine
7	chr6:140173000-140175400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:140173200-140175400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:140173200-140177000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:140173400-140174600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:140173400-140174800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:140173400-140174800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr6:140173400-140174800	Enhancers	HSMMtube	muscle
14	chr6:140173400-140174800	Enhancers	NH-A	brain
15	chr6:140173400-140175000	Enhancers	Small Intestine	intestine
16	chr6:140173400-140175000	Enhancers	HSMM	muscle
17	chr6:140173400-140175200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr6:140173400-140175200	Enhancers	Duodenum Mucosa	Duodenum
19	chr6:140173400-140175200	Enhancers	NHLF	lung
20	chr6:140173400-140175400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:140173400-140178600	Enhancers	Colon Smooth Muscle	Colon
22	chr6:140173400-140178600	Enhancers	Osteobl	bone
23	chr6:140173400-140180200	Enhancers	Fetal Kidney	kidney
24	chr6:140173400-140182200	Enhancers	Rectal Smooth Muscle	rectum
25	chr6:140173600-140173800	Enhancers	Fetal Stomach	stomach
26	chr6:140173600-140174000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:140173600-140174000	Enhancers	HMEC	breast
28	chr6:140173600-140174000	Enhancers	HUVEC	blood vessel
29	chr6:140173600-140174600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr6:140173600-140174800	Enhancers	Ovary	ovary
31	chr6:140173600-140175200	Enhancers	HepG2	liver
32	chr6:140173600-140175800	Enhancers	NHDF-Ad	bronchial

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