Variant report

Variant	rs62435714
Chromosome Location	chr7:12254012-12254013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12252737..12254776-chr7:12374517..12377204,2	K562	blood:
2	chr7:12249600..12252160-chr7:12253416..12257066,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106460	Chromatin interaction

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

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

rs_ID	r²[population]
rs10488192	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11983898	0.81[AMR][1000 genomes]
rs12666279	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12673866	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16877363	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17165702	0.87[ASN][1000 genomes]
rs2043540	0.83[EUR][1000 genomes]
rs58759116	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62435687	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62435691	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62435714	TMEM106B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12252000-12254200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
2	chr7:12252000-12254400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:12252000-12254400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:12252000-12254400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr7:12252000-12254400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr7:12252000-12254400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:12252000-12254800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr7:12252000-12255400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr7:12252000-12255400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:12252000-12256000	Weak transcription	Lung	lung
11	chr7:12252000-12256200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:12252000-12256200	Weak transcription	Ovary	ovary
13	chr7:12252000-12256200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:12252000-12256400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:12252000-12261200	Weak transcription	Aorta	Aorta
16	chr7:12252000-12261200	Weak transcription	Esophagus	oesophagus
17	chr7:12252000-12261200	Weak transcription	Stomach Mucosa	stomach
18	chr7:12252000-12263600	Weak transcription	Thymus	Thymus
19	chr7:12252000-12266200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:12252000-12271000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:12252000-12271600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:12252000-12277600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr7:12252000-12278200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:12252000-12280000	Weak transcription	Colonic Mucosa	Colon
25	chr7:12252000-12280000	Weak transcription	Right Ventricle	heart
26	chr7:12252000-12285400	Weak transcription	Spleen	Spleen
27	chr7:12252200-12254400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr7:12252200-12254400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr7:12252200-12254600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr7:12252200-12258400	Weak transcription	HSMM	muscle
31	chr7:12252200-12259600	Weak transcription	HMEC	breast
32	chr7:12252200-12262200	Weak transcription	GM12878-XiMat	blood
33	chr7:12252200-12263600	Weak transcription	NH-A	brain
34	chr7:12252200-12263800	Weak transcription	Osteobl	bone
35	chr7:12252200-12279200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:12252200-12279400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr7:12252400-12254200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:12252400-12254400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:12252400-12254400	Weak transcription	Adipose Nuclei	Adipose
40	chr7:12252400-12254600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:12252400-12254600	Weak transcription	Fetal Thymus	thymus
42	chr7:12252400-12254600	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr7:12252400-12254800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr7:12252400-12254800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:12252400-12255000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:12252400-12255000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr7:12252400-12255000	Weak transcription	Fetal Intestine Large	intestine
48	chr7:12252400-12255000	Weak transcription	Fetal Stomach	stomach
49	chr7:12252400-12255200	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:12252400-12255200	Weak transcription	Primary hematopoietic stem cells	blood

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