Variant report

Variant	rs7929974
Chromosome Location	chr11:75029167-75029168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75022848..75024438-chr11:75027492..75030341,2	K562	blood:
2	chr11:75022624..75025520-chr11:75027160..75030894,5	K562	blood:
3	chr11:75026168..75029879-chr11:75034500..75038178,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs555031	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]

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	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7929974	ARAP1	cis	cerebellum	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74998800-75041400	Weak transcription	Brain Germinal Matrix	brain
2	chr11:75000200-75037600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr11:75000400-75033000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:75005200-75033000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:75018200-75034800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr11:75021000-75037600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:75023200-75031200	Weak transcription	Fetal Brain Female	brain
8	chr11:75023400-75039600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:75023800-75030000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr11:75024800-75032800	Weak transcription	Primary T cells from cord blood	blood
11	chr11:75025000-75030400	Weak transcription	Fetal Kidney	kidney
12	chr11:75025200-75030200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:75025400-75030200	Weak transcription	NHLF	lung
14	chr11:75025400-75030400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:75025400-75036600	Weak transcription	Hela-S3	cervix
16	chr11:75025400-75039600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:75025600-75029800	Weak transcription	Fetal Lung	lung
18	chr11:75025600-75030200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:75025600-75030200	Weak transcription	Esophagus	oesophagus
20	chr11:75025600-75030400	Weak transcription	Ovary	ovary
21	chr11:75025600-75031400	Weak transcription	Placenta	Placenta
22	chr11:75025600-75033800	Weak transcription	Liver	Liver
23	chr11:75025600-75036600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr11:75025600-75036600	Weak transcription	NHDF-Ad	bronchial
25	chr11:75025600-75036800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:75025600-75037000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:75025800-75029800	Weak transcription	HepG2	liver
28	chr11:75025800-75030800	Weak transcription	Small Intestine	intestine
29	chr11:75025800-75039600	Weak transcription	Thymus	Thymus
30	chr11:75026200-75030200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr11:75026200-75030600	Weak transcription	Right Ventricle	heart
32	chr11:75026400-75030200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:75026800-75031200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr11:75027000-75030200	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr11:75027000-75031400	Weak transcription	HUVEC	blood vessel
36	chr11:75027000-75033000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:75027000-75033800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:75027000-75034800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr11:75027000-75039400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr11:75027600-75031000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr11:75027800-75030400	Weak transcription	Spleen	Spleen
42	chr11:75027800-75033600	Weak transcription	K562	blood
43	chr11:75028000-75030600	Enhancers	Fetal Muscle Leg	muscle
44	chr11:75028000-75032600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr11:75028000-75037600	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr11:75028200-75029200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr11:75028200-75029200	Enhancers	Adipose Nuclei	Adipose
48	chr11:75028200-75029200	Enhancers	Brain Hippocampus Middle	brain
49	chr11:75028200-75029200	Enhancers	Brain Substantia Nigra	brain
50	chr11:75028200-75030200	Enhancers	Lung	lung

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