Variant report

Variant	rs12522843
Chromosome Location	chr5:95125084-95125085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:95124552..95129345-chr5:95168769..95172384,4	MCF-7	breast:
2	chr5:95113885..95115837-chr5:95125042..95127003,2	K562	blood:
3	chr5:95120707..95122850-chr5:95124807..95126712,2	K562	blood:
4	chr5:95124813..95127527-chr5:95157299..95159315,2	MCF-7	breast:
5	chr5:95113885..95116824-chr5:95125042..95126825,2	K562	blood:

Variant related genes	Relation type
ENSG00000164292	Chromatin interaction
ENSG00000251000	Chromatin interaction
ENSG00000173221	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10515229	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11745143	1.00[CHB][hapmap]
rs12518592	0.82[EUR][1000 genomes]
rs12522899	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs41276257	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6894498	0.82[EUR][1000 genomes]
rs9784676	0.85[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	nsv598955	chr5:94903453-95136019	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830409	chr5:95006686-95204496	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95072800-95133400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:95087800-95134000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:95096400-95125400	Weak transcription	Small Intestine	intestine
4	chr5:95096600-95129800	Weak transcription	Colonic Mucosa	Colon
5	chr5:95105000-95131800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:95106400-95127400	Weak transcription	Fetal Brain Male	brain
7	chr5:95115000-95130200	Strong transcription	K562	blood
8	chr5:95115400-95127600	Weak transcription	Lung	lung
9	chr5:95115400-95127600	Weak transcription	Spleen	Spleen
10	chr5:95115400-95129400	Weak transcription	Pancreas	Pancrea
11	chr5:95115400-95137800	Weak transcription	Right Atrium	heart
12	chr5:95115400-95138600	Weak transcription	Gastric	stomach
13	chr5:95115400-95139000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr5:95115400-95157000	Weak transcription	Aorta	Aorta
15	chr5:95115600-95134000	Strong transcription	HSMM	muscle
16	chr5:95115800-95133800	Weak transcription	HUVEC	blood vessel
17	chr5:95117200-95125600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:95117200-95133600	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr5:95117200-95143000	Weak transcription	Primary B cells from cord blood	blood
20	chr5:95117200-95143200	Weak transcription	Primary T cells from cord blood	blood
21	chr5:95117200-95143400	Weak transcription	Thymus	Thymus
22	chr5:95117400-95125200	Weak transcription	GM12878-XiMat	blood
23	chr5:95117400-95129600	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:95117400-95130000	Strong transcription	Fetal Muscle Leg	muscle
25	chr5:95117400-95131800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:95117400-95144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr5:95119000-95133400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr5:95119400-95129200	Strong transcription	NH-A	brain
29	chr5:95119400-95129800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:95119400-95130200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr5:95119400-95133400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr5:95119600-95129600	Weak transcription	Brain Cingulate Gyrus	brain
33	chr5:95120200-95133200	Weak transcription	Fetal Kidney	kidney
34	chr5:95120800-95126200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:95120800-95126400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:95120800-95138600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:95120800-95138600	Weak transcription	Psoas Muscle	Psoas
38	chr5:95120800-95143400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr5:95121000-95128800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr5:95121000-95128800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr5:95121000-95129800	Weak transcription	Fetal Heart	heart
42	chr5:95121000-95135400	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr5:95121000-95137600	Weak transcription	Fetal Thymus	thymus
44	chr5:95121000-95156800	Weak transcription	Brain Germinal Matrix	brain
45	chr5:95121200-95125200	Weak transcription	Fetal Intestine Small	intestine
46	chr5:95121400-95128000	Strong transcription	HSMMtube	muscle
47	chr5:95122200-95128000	Strong transcription	Ovary	ovary
48	chr5:95122400-95126600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr5:95122800-95129400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:95123000-95129400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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