Variant report

Variant	rs11171705
Chromosome Location	chr12:56356559-56356560
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	chr12:56348859..56350368-chr12:56354884..56356633,2	K562	blood:
2	chr12:56355610..56357351-chr12:56358579..56360403,2	K562	blood:

Variant related genes	Relation type
ENSG00000185664	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12307952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12309895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2069391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2069398	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11171705	PMEL	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56345400-56359000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:56346600-56360000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:56346800-56359400	Weak transcription	Brain Anterior Caudate	brain
4	chr12:56347000-56359600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:56347200-56360000	Weak transcription	HSMMtube	muscle
6	chr12:56347400-56359600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:56347400-56359800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:56347400-56359800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:56347600-56359800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:56347800-56359400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:56348200-56359400	Weak transcription	Liver	Liver
12	chr12:56348200-56359600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:56348200-56360000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:56348400-56359600	Weak transcription	Primary B cells from cord blood	blood
15	chr12:56348400-56359600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr12:56348400-56359800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr12:56348400-56359800	Weak transcription	Fetal Lung	lung
18	chr12:56348800-56359600	Weak transcription	Spleen	Spleen
19	chr12:56349200-56359600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr12:56349200-56359600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr12:56349400-56359400	Weak transcription	Dnd41	blood
22	chr12:56349400-56359600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:56349400-56359600	Weak transcription	Thymus	Thymus
24	chr12:56349600-56359400	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:56349600-56359600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:56349800-56359600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:56350000-56359800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:56351200-56359200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:56351200-56359200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:56351600-56359800	Weak transcription	Primary T cells from cord blood	blood
31	chr12:56351800-56357600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:56351800-56359200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:56351800-56359400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:56351800-56359800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr12:56351800-56359800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:56351800-56359800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:56352000-56359600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:56352000-56359800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr12:56352200-56359200	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:56352200-56359400	Weak transcription	Stomach Mucosa	stomach
41	chr12:56352400-56359000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:56352400-56359000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:56352600-56359000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr12:56352800-56359600	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:56353000-56358800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr12:56353200-56359200	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr12:56354000-56359800	Weak transcription	K562	blood
48	chr12:56354200-56359600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:56354400-56359400	Weak transcription	Ovary	ovary
50	chr12:56355400-56359000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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