Variant report

Variant	rs347938
Chromosome Location	chr15:33180764-33180765
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	PBX3	chr15:33180450-33181107	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr15:33180730-33180971	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr15:33180517-33181138	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
FMN1	TF binding region

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2339161	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347928	0.87[LWK][hapmap];0.82[YRI][hapmap]
rs347934	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347944	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347945	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs347953	0.80[YRI][hapmap]
rs501747	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs515107	1.00[AMR][1000 genomes]
rs534910	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60003861	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8025666	0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs8031846	0.81[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422296	chr15:32798938-33221215	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv456785	chr15:32926076-33352989	Genic enhancers Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv568913	chr15:32926076-33352989	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv832962	chr15:33111517-33239736	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv903978	chr15:33144202-33308641	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv903979	chr15:33144202-33550256	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1041609	chr15:33148035-33355999	Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv542339	chr15:33148035-33355999	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv903980	chr15:33149087-33264201	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv1052966	chr15:33149753-33541951	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv542340	chr15:33149753-33541951	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
12	nsv568917	chr15:33167171-33304172	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33138800-33190600	Weak transcription	Thymus	Thymus
2	chr15:33139600-33190600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr15:33147000-33191400	Weak transcription	Lung	lung
4	chr15:33149000-33202000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr15:33154400-33192800	Weak transcription	Colonic Mucosa	Colon
6	chr15:33154400-33216800	Weak transcription	Fetal Thymus	thymus
7	chr15:33155000-33208200	Weak transcription	Fetal Kidney	kidney
8	chr15:33160000-33201800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:33162200-33202400	Weak transcription	Gastric	stomach
10	chr15:33166000-33202400	Weak transcription	Pancreas	Pancrea
11	chr15:33166200-33211800	Weak transcription	HSMMtube	muscle
12	chr15:33170600-33186800	Weak transcription	Spleen	Spleen
13	chr15:33170800-33196200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr15:33170800-33200400	Weak transcription	NH-A	brain
15	chr15:33172000-33181600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:33174000-33182000	Enhancers	Colon Smooth Muscle	Colon
17	chr15:33174000-33182000	Enhancers	Rectal Smooth Muscle	rectum
18	chr15:33175600-33185000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr15:33178000-33190800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr15:33178400-33180800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:33178400-33190400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr15:33178800-33197600	Weak transcription	Osteobl	bone
23	chr15:33179000-33180800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr15:33179000-33198000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr15:33179200-33185400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:33179400-33182000	Enhancers	Stomach Smooth Muscle	stomach
27	chr15:33179600-33180800	Weak transcription	Fetal Stomach	stomach
28	chr15:33179600-33181800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr15:33180200-33181800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:33180200-33181800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:33180200-33182000	Enhancers	NHDF-Ad	bronchial
32	chr15:33180400-33181000	Enhancers	NHLF	lung
33	chr15:33180400-33181200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:33180600-33181200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr15:33180600-33181600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr15:33180600-33185200	Weak transcription	HSMM	muscle
37	chr15:33180600-33196600	Weak transcription	Placenta	Placenta

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