Variant report

Variant	rs625232
Chromosome Location	chr11:75863210-75863211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75607508..75608588-chr11:75862991..75863892,5	MCF-7	breast:
2	chr11:75862929..75863882-chr11:76029395..76030079,4	K562	blood:
3	chr11:75607077..75608544-chr11:75862937..75863839,5	K562	blood:
4	chr11:75862934..75863810-chr11:75918354..75919268,2	K562	blood:
5	chr11:75827427..75828061-chr11:75862929..75863644,2	MCF-7	breast:
6	chr11:75679377..75681059-chr11:75863070..75865584,2	MCF-7	breast:
7	chr11:75855694..75857259-chr11:75861740..75864650,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10793139	0.93[EUR][1000 genomes]
rs2851570	0.84[ASN][1000 genomes]
rs593570	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs605771	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs612221	0.84[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	nsv394	chr11:75820547-75865777	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1049039	chr11:75827548-76023665	Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1051472	chr11:75851880-75922608	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1037940	chr11:75855316-75909619	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv897926	chr11:75862571-76004202	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs625232	NUMA1	cis	cerebellum	SCAN
rs625232	ARHGEF17	cis	parietal	SCAN
rs625232	CLPB	cis	parietal	SCAN

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75833400-75872800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:75847000-75863400	Weak transcription	Psoas Muscle	Psoas
3	chr11:75851200-75863400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:75854000-75863400	Weak transcription	Fetal Brain Female	brain
5	chr11:75854200-75863600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:75854600-75863400	Weak transcription	Thymus	Thymus
7	chr11:75862800-75863400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:75862800-75863400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:75862800-75863400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:75862800-75863400	Enhancers	Fetal Intestine Large	intestine
11	chr11:75862800-75863400	Enhancers	Fetal Intestine Small	intestine
12	chr11:75862800-75863400	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr11:75862800-75863400	Enhancers	Left Ventricle	heart
14	chr11:75862800-75863400	Enhancers	Stomach Mucosa	stomach
15	chr11:75862800-75863600	Bivalent Enhancer	Dnd41	blood
16	chr11:75862800-75863800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
17	chr11:75862800-75863800	Active TSS	Rectal Smooth Muscle	rectum
18	chr11:75862800-75864600	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:75862800-75865000	Enhancers	Pancreas	Pancrea
20	chr11:75862800-75869200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:75863000-75863400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr11:75863000-75863400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:75863000-75863400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:75863000-75863400	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr11:75863000-75863400	Enhancers	Primary B cells from cord blood	blood
26	chr11:75863000-75863400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr11:75863000-75863400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:75863000-75863400	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr11:75863000-75863400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:75863000-75863400	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr11:75863000-75863400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:75863000-75863400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr11:75863000-75863400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:75863000-75863400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:75863000-75863400	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr11:75863000-75863400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr11:75863000-75863400	Enhancers	Fetal Muscle Trunk	muscle
38	chr11:75863000-75863400	Bivalent Enhancer	Fetal Stomach	stomach
39	chr11:75863000-75863400	Enhancers	Fetal Thymus	thymus
40	chr11:75863000-75863400	Enhancers	Ovary	ovary
41	chr11:75863000-75863400	Enhancers	Right Atrium	heart
42	chr11:75863000-75863400	Enhancers	Right Ventricle	heart
43	chr11:75863000-75863400	Active TSS	Stomach Smooth Muscle	stomach
44	chr11:75863000-75863400	Enhancers	HUVEC	blood vessel
45	chr11:75863000-75863400	Enhancers	NHDF-Ad	bronchial
46	chr11:75863000-75863600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr11:75863000-75863600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr11:75863000-75863600	Active TSS	Brain Germinal Matrix	brain
49	chr11:75863000-75863600	Enhancers	Lung	lung
50	chr11:75863000-75863600	Flanking Active TSS	Hela-S3	cervix

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