Variant report

Variant	rs4923852
Chromosome Location	chr15:40377865-40377866
allele	A/G
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	TAL1	chr15:40377728-40378024	K562	blood:	n/a	n/a
2	POLR2A	chr15:40377250-40377895	SK-N-MC	brain:	n/a	n/a
3	GATA1	chr15:40377274-40378009	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40376791..40380091-chr15:40393802..40397569,3	MCF-7	breast:
2	chr15:40373200..40375789-chr15:40377087..40378964,2	MCF-7	breast:
3	chr15:40377744..40380085-chr15:40392736..40394463,2	K562	blood:

Variant related genes	Relation type
ENSG00000259409	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11638521	0.81[EUR][1000 genomes]
rs2412456	1.00[ASW][hapmap]
rs28479712	0.83[EUR][1000 genomes]
rs28534747	0.83[EUR][1000 genomes]
rs28587891	0.83[EUR][1000 genomes]
rs28620926	0.82[EUR][1000 genomes]
rs4924415	0.83[EUR][1000 genomes]
rs4924416	0.82[EUR][1000 genomes]
rs7181230	0.82[EUR][1000 genomes]
rs7183977	1.00[ASW][hapmap];0.83[LWK][hapmap];0.84[MEX][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9972424	0.83[EUR][1000 genomes]
rs9972442	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4923852	FSIP1	cis	parietal	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40373800-40378800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:40374200-40381400	Enhancers	Fetal Thymus	thymus
3	chr15:40374200-40388200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr15:40374400-40379000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:40374600-40379200	Weak transcription	Aorta	Aorta
6	chr15:40374800-40379400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr15:40374800-40380400	Weak transcription	Ovary	ovary
8	chr15:40374800-40380600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr15:40374800-40382000	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr15:40374800-40383800	Weak transcription	Brain Substantia Nigra	brain
11	chr15:40375000-40378600	Weak transcription	Psoas Muscle	Psoas
12	chr15:40375000-40378800	Weak transcription	Right Atrium	heart
13	chr15:40375000-40378800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr15:40375000-40379200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:40375000-40380800	Weak transcription	NHLF	lung
16	chr15:40375000-40382200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:40375000-40383600	Weak transcription	Brain Anterior Caudate	brain
18	chr15:40375000-40383800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr15:40375000-40384200	Weak transcription	Brain Angular Gyrus	brain
20	chr15:40375200-40378400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:40375200-40378800	Weak transcription	Colon Smooth Muscle	Colon
22	chr15:40375200-40378800	Weak transcription	Pancreas	Pancrea
23	chr15:40375200-40378800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr15:40375200-40378800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr15:40375200-40379000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr15:40375200-40380800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr15:40375200-40381800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr15:40375400-40380600	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:40375800-40380200	Weak transcription	Spleen	Spleen
30	chr15:40375800-40380400	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:40376000-40379200	Weak transcription	Fetal Intestine Small	intestine
32	chr15:40376000-40379600	Weak transcription	Fetal Intestine Large	intestine
33	chr15:40376000-40380400	Weak transcription	Lung	lung
34	chr15:40376000-40383600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr15:40376200-40379800	Weak transcription	Left Ventricle	heart
36	chr15:40376200-40380400	Weak transcription	Adipose Nuclei	Adipose
37	chr15:40376200-40381000	Weak transcription	GM12878-XiMat	blood
38	chr15:40376400-40378400	Weak transcription	Fetal Lung	lung
39	chr15:40376400-40380600	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr15:40376400-40381600	Weak transcription	Primary B cells from cord blood	blood
41	chr15:40376600-40378000	Enhancers	Stomach Mucosa	stomach
42	chr15:40376600-40380400	Weak transcription	Liver	Liver
43	chr15:40376800-40378200	Enhancers	Fetal Heart	heart
44	chr15:40376800-40379800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr15:40376800-40381800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr15:40377000-40378000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr15:40377000-40378000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr15:40377200-40378200	Enhancers	Fetal Kidney	kidney
49	chr15:40377200-40379000	Enhancers	Esophagus	oesophagus
50	chr15:40377200-40379200	Weak transcription	HSMMtube	muscle

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