Variant report

Variant	rs34750132
Chromosome Location	chr9:108122710-108122711
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:108110851..108112988-chr9:108122126..108124585,2	MCF-7	breast:
2	chr9:108118075..108120641-chr9:108122111..108124563,2	MCF-7	breast:
3	chr9:108007022..108007998-chr9:108122682..108123316,3	MCF-7	breast:
4	chr9:108119072..108120884-chr9:108121827..108123980,2	K562	blood:
5	chr9:108122585..108123601-chr9:108175561..108176400,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070214	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10123494	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10820801	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10991629	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10991639	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12339823	0.84[AMR][1000 genomes]
rs12342542	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12350138	0.82[EUR][1000 genomes]
rs13294525	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13294539	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1410839	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16924530	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs2417615	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2771033	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2771040	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3199966	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs35603631	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4549843	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479311	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6479313	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479315	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6479316	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7024985	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7029443	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7044901	1.00[ASN][1000 genomes]
rs7045091	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7865985	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7873937	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs907230	0.88[AMR][1000 genomes];0.87[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	nsv1045108	chr9:107509553-108188550	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
2	nsv893689	chr9:107978563-108130606	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34750132	SLC44A1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108055600-108151200	Weak transcription	Esophagus	oesophagus
2	chr9:108081000-108123000	Weak transcription	Primary B cells from cord blood	blood
3	chr9:108091600-108150400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr9:108092000-108124000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:108092000-108148000	Weak transcription	Psoas Muscle	Psoas
6	chr9:108093200-108123200	Weak transcription	Colonic Mucosa	Colon
7	chr9:108093200-108149800	Weak transcription	HUVEC	blood vessel
8	chr9:108096200-108164200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:108096400-108131800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr9:108097000-108122800	Weak transcription	Fetal Kidney	kidney
11	chr9:108097200-108124600	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr9:108097400-108133600	Weak transcription	Placenta	Placenta
13	chr9:108097600-108147000	Weak transcription	HMEC	breast
14	chr9:108099200-108123400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:108099200-108123800	Weak transcription	Aorta	Aorta
16	chr9:108100200-108123000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr9:108100200-108123400	Weak transcription	Fetal Stomach	stomach
18	chr9:108100200-108136200	Weak transcription	Fetal Muscle Leg	muscle
19	chr9:108100200-108149600	Weak transcription	Pancreas	Pancrea
20	chr9:108100600-108123400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr9:108104800-108122800	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:108104800-108124000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr9:108104800-108124200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr9:108104800-108129600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr9:108104800-108147600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr9:108105000-108122800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr9:108105000-108123400	Weak transcription	Adipose Nuclei	Adipose
28	chr9:108105000-108124000	Weak transcription	Fetal Intestine Small	intestine
29	chr9:108105000-108125000	Weak transcription	HSMMtube	muscle
30	chr9:108105000-108129800	Weak transcription	Ovary	ovary
31	chr9:108105000-108133000	Weak transcription	Dnd41	blood
32	chr9:108105000-108133400	Weak transcription	Fetal Thymus	thymus
33	chr9:108105000-108149600	Weak transcription	Right Ventricle	heart
34	chr9:108105000-108151200	Weak transcription	Gastric	stomach
35	chr9:108105000-108154800	Weak transcription	Small Intestine	intestine
36	chr9:108105200-108149800	Weak transcription	NHDF-Ad	bronchial
37	chr9:108107000-108125200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr9:108109000-108123600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr9:108109400-108123400	Weak transcription	Brain Germinal Matrix	brain
40	chr9:108109600-108124000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr9:108110400-108123400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:108110400-108123600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr9:108112400-108123400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:108114600-108123400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr9:108116000-108125800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr9:108116200-108127800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr9:108117000-108146400	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr9:108117400-108147400	Weak transcription	Spleen	Spleen
49	chr9:108117600-108130000	Weak transcription	Hela-S3	cervix
50	chr9:108118200-108147200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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