Variant report

Variant	rs17204145
Chromosome Location	chr3:137921391-137921392
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:137906003..137907814-chr3:137920247..137922591,3	MCF-7	breast:
2	chr3:137916530..137924302-chr3:137926025..137931716,11	K562	blood:
3	chr3:137903863..137909871-chr3:137917605..137922211,7	K562	blood:
4	chr3:137891568..137893180-chr3:137920750..137922415,2	K562	blood:
5	chr3:137904535..137910054-chr3:137912225..137921556,13	K562	blood:

Variant related genes	Relation type
ENSG00000114098	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs2293033	0.88[JPT][hapmap]
rs4678258	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.95[TSI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6778511	0.84[CHD][hapmap]
rs7612622	0.82[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription 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 lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv998106	chr3:137851198-137934610	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv877536	chr3:137870523-137970907	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17204145	BPESC1	cis	parietal	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137907600-137921800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr3:137907600-137922200	Weak transcription	Esophagus	oesophagus
3	chr3:137907600-137929400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:137907600-137941600	Weak transcription	Lung	lung
5	chr3:137907600-137942200	Weak transcription	Pancreas	Pancrea
6	chr3:137907600-137942400	Weak transcription	Spleen	Spleen
7	chr3:137907800-137922200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:137907800-137922400	Weak transcription	Thymus	Thymus
9	chr3:137907800-137925400	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:137907800-137941000	Weak transcription	Fetal Kidney	kidney
11	chr3:137908000-137922200	Weak transcription	Adipose Nuclei	Adipose
12	chr3:137908000-137922200	Weak transcription	Aorta	Aorta
13	chr3:137908000-137922200	Weak transcription	HSMMtube	muscle
14	chr3:137908000-137929200	Weak transcription	NHLF	lung
15	chr3:137908000-137940400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:137908200-137940600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:137908400-137929200	Weak transcription	Osteobl	bone
18	chr3:137908400-137941600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr3:137908400-137942200	Weak transcription	NHDF-Ad	bronchial
20	chr3:137908400-137942400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr3:137908400-137956200	Weak transcription	A549	lung
22	chr3:137908600-137924000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:137908800-137931000	Weak transcription	HUVEC	blood vessel
24	chr3:137908800-137941800	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr3:137908800-137942200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr3:137909000-137922200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr3:137909000-137922200	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:137909000-137932000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:137909800-137922800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr3:137910600-137921800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr3:137910600-137922000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:137910600-137935800	Weak transcription	Dnd41	blood
33	chr3:137910600-137941600	Weak transcription	Hela-S3	cervix
34	chr3:137910800-137922200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr3:137910800-137928400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr3:137911000-137921800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:137911000-137922200	Weak transcription	Fetal Thymus	thymus
38	chr3:137911000-137926600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr3:137911000-137941000	Weak transcription	Placenta	Placenta
40	chr3:137911000-137942400	Weak transcription	Brain Germinal Matrix	brain
41	chr3:137911600-137921800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:137911600-137922200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:137911600-137925400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr3:137911800-137924200	Weak transcription	Fetal Lung	lung
45	chr3:137911800-137941600	Weak transcription	Fetal Muscle Trunk	muscle
46	chr3:137912000-137941600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:137912200-137922200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr3:137912400-137922200	Weak transcription	Psoas Muscle	Psoas
49	chr3:137912400-137925400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr3:137912400-137942400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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