Variant report

Variant	rs72888535
Chromosome Location	chr2:47199217-47199218
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47167293..47170062-chr2:47196955..47199343,2	K562	blood:
2	chr2:47166510..47168193-chr2:47197498..47199709,2	MCF-7	breast:
3	chr2:47192520..47194152-chr2:47197519..47201107,3	K562	blood:
4	chr2:47197750..47199615-chr2:47402613..47404212,2	MCF-7	breast:
5	chr2:47197718..47199744-chr2:47426207..47428375,2	MCF-7	breast:
6	chr2:47198362..47200774-chr2:47207735..47209827,2	K562	blood:
7	chr2:47198749..47201543-chr2:47204357..47206342,2	MCF-7	breast:
8	chr2:47197025..47200212-chr2:47401779..47404367,3	K562	blood:
9	chr2:47195860..47200774-chr2:47207735..47210386,4	K562	blood:
10	chr2:47166867..47170590-chr2:47194468..47200247,20	MCF-7	breast:
11	chr2:47182193..47183883-chr2:47197911..47200319,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000068724	Chromatin interaction
ENSG00000180398	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17481321	0.81[AMR][1000 genomes]
rs17540003	0.81[AMR][1000 genomes]
rs17540184	0.81[AMR][1000 genomes]
rs17540504	0.83[AMR][1000 genomes]
rs35597921	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55633663	0.81[AMR][1000 genomes]
rs57638429	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57770875	0.83[AMR][1000 genomes]
rs60866910	0.81[AMR][1000 genomes]
rs72888558	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv457352	chr2:47004788-47325973	Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv581749	chr2:47004788-47325973	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
5	nsv524970	chr2:47162739-47302095	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1000377	chr2:47189386-47344029	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72888535	CRIPT	cis	brain	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47169800-47214600	Weak transcription	Fetal Kidney	kidney
2	chr2:47174400-47212400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:47177200-47210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr2:47181600-47210800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:47184600-47205000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr2:47185000-47206000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:47185200-47210200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:47185400-47205800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr2:47185400-47210400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:47186200-47200800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:47186400-47205600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr2:47186800-47205200	Weak transcription	Gastric	stomach
13	chr2:47186800-47205800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr2:47187400-47206000	Weak transcription	Fetal Brain Female	brain
15	chr2:47187800-47203200	Weak transcription	Brain Germinal Matrix	brain
16	chr2:47187800-47210200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:47188000-47205200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:47188000-47207000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:47193800-47204000	Strong transcription	Primary T cells from cord blood	blood
20	chr2:47194800-47200200	Strong transcription	Thymus	Thymus
21	chr2:47195200-47202200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr2:47195400-47202000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:47195600-47200200	Enhancers	Stomach Mucosa	stomach
24	chr2:47195600-47205200	Weak transcription	Fetal Lung	lung
25	chr2:47195600-47210400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:47195600-47212800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr2:47195800-47199800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:47195800-47199800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr2:47195800-47200000	Enhancers	HMEC	breast
30	chr2:47195800-47200200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr2:47195800-47200600	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:47195800-47202000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr2:47195800-47202000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr2:47196000-47200600	Weak transcription	HSMMtube	muscle
35	chr2:47196000-47205800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:47196400-47211800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:47196600-47227800	Strong transcription	Dnd41	blood
38	chr2:47196800-47199600	Genic enhancers	Osteobl	bone
39	chr2:47197000-47199600	Enhancers	NHDF-Ad	bronchial
40	chr2:47197200-47202000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:47197200-47203200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:47197400-47199400	Enhancers	HUVEC	blood vessel
43	chr2:47197600-47200800	Strong transcription	Fetal Thymus	thymus
44	chr2:47197600-47206000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:47197800-47199600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:47197800-47200000	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr2:47197800-47200400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:47197800-47201200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:47197800-47201600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:47197800-47202000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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