Variant report

Variant	rs12333083
Chromosome Location	chr6:88436158-88436159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:88409500..88413852-chr6:88432597..88436839,10	K562	blood:
2	chr6:88436022..88438583-chr6:88439057..88441989,2	MCF-7	breast:
3	chr6:88410379..88413746-chr6:88430806..88436396,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135334	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs12202349	0.84[ASN][1000 genomes]
rs12333086	0.88[AMR][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	esv2758068	chr6:88358988-88441473	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2759454	chr6:88358988-88441473	Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12333083	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:88420200-88436800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:88424600-88439200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:88427600-88439400	Weak transcription	Right Atrium	heart
4	chr6:88429400-88439400	Weak transcription	Esophagus	oesophagus
5	chr6:88432400-88436400	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:88432800-88437400	Enhancers	Fetal Thymus	thymus
7	chr6:88433400-88437400	Weak transcription	Placenta	Placenta
8	chr6:88433400-88437600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:88433400-88439200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:88433400-88439400	Weak transcription	Spleen	Spleen
11	chr6:88433400-88440400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr6:88433400-88441200	Weak transcription	Pancreas	Pancrea
13	chr6:88433800-88437000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr6:88433800-88437200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:88433800-88437400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:88433800-88437400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr6:88433800-88437400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:88433800-88437400	Weak transcription	Hela-S3	cervix
19	chr6:88433800-88437600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr6:88433800-88438400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:88433800-88438600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:88433800-88438600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:88433800-88439400	Weak transcription	Left Ventricle	heart
24	chr6:88433800-88439400	Weak transcription	Right Ventricle	heart
25	chr6:88433800-88439600	Weak transcription	HepG2	liver
26	chr6:88433800-88439800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr6:88433800-88440400	Weak transcription	HSMM	muscle
28	chr6:88433800-88441200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr6:88433800-88441400	Weak transcription	Brain Substantia Nigra	brain
30	chr6:88433800-88441400	Weak transcription	HSMMtube	muscle
31	chr6:88433800-88441600	Weak transcription	NHLF	lung
32	chr6:88433800-88441800	Weak transcription	Brain Angular Gyrus	brain
33	chr6:88434000-88437200	Weak transcription	HMEC	breast
34	chr6:88434000-88437200	Weak transcription	NHEK	skin
35	chr6:88434000-88437400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:88434000-88437400	Weak transcription	NHDF-Ad	bronchial
37	chr6:88434800-88441400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr6:88435000-88436200	Enhancers	Thymus	Thymus
39	chr6:88435200-88440400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:88435400-88437400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:88435400-88441400	Weak transcription	Adipose Nuclei	Adipose
42	chr6:88435600-88437400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:88435600-88437400	Weak transcription	A549	lung
44	chr6:88435600-88438600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr6:88435600-88440200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:88435600-88440200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr6:88435600-88440400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr6:88435600-88441000	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr6:88435600-88441200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr6:88435600-88441400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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