Variant report

Variant	rs34989396
Chromosome Location	chr1:112950659-112950660
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	chr1:112945712..112947668-chr1:112948180..112951090,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12727145	1.00[ASN][1000 genomes]
rs12729635	1.00[ASN][1000 genomes]
rs12737053	1.00[ASN][1000 genomes]
rs34961977	1.00[ASN][1000 genomes]
rs35119735	1.00[ASN][1000 genomes]
rs351366	1.00[ASN][1000 genomes]
rs35735679	1.00[ASN][1000 genomes]
rs35947845	1.00[ASN][1000 genomes]
rs71644398	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1850997	chr1:112944472-112993754	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34989396	CTTNBP2NL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112940000-112952200	Weak transcription	Esophagus	oesophagus
2	chr1:112940000-112954400	Weak transcription	Fetal Muscle Leg	muscle
3	chr1:112940000-112956400	Weak transcription	Left Ventricle	heart
4	chr1:112940000-112961400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:112940200-112958400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:112940600-112958800	Weak transcription	Colonic Mucosa	Colon
7	chr1:112940600-112962000	Weak transcription	Psoas Muscle	Psoas
8	chr1:112940800-112955000	Weak transcription	Adipose Nuclei	Adipose
9	chr1:112941200-112955000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:112941200-112955000	Weak transcription	Fetal Kidney	kidney
11	chr1:112941400-112954400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:112941400-112956400	Weak transcription	Fetal Intestine Small	intestine
13	chr1:112941400-112959400	Weak transcription	Brain Germinal Matrix	brain
14	chr1:112941600-112959600	Weak transcription	Fetal Brain Female	brain
15	chr1:112942400-112952200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:112942400-112988200	Weak transcription	Small Intestine	intestine
17	chr1:112942600-112954800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:112942600-112955400	Weak transcription	Fetal Intestine Large	intestine
19	chr1:112942600-112966400	Weak transcription	Spleen	Spleen
20	chr1:112942600-112967000	Weak transcription	Pancreas	Pancrea
21	chr1:112944800-112959000	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:112945000-112966400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr1:112946800-112952200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:112946800-112959000	Weak transcription	GM12878-XiMat	blood
25	chr1:112946800-112960800	Weak transcription	Brain Substantia Nigra	brain
26	chr1:112946800-112970600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:112947000-112954400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:112947000-112954600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr1:112947000-112956800	Weak transcription	Brain Anterior Caudate	brain
30	chr1:112947200-112956600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr1:112947200-112958200	Weak transcription	Right Ventricle	heart
32	chr1:112947200-112959000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:112947200-112959200	Weak transcription	Ovary	ovary
34	chr1:112947200-112961800	Weak transcription	A549	lung
35	chr1:112947200-112961800	Weak transcription	HepG2	liver
36	chr1:112947200-112971200	Weak transcription	Aorta	Aorta
37	chr1:112947200-112981000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:112947400-112953800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:112947400-112954400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr1:112947400-112954400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:112947400-112954600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:112947400-112954600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr1:112947400-112955600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:112947400-112965600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr1:112947600-112954400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:112947600-112954600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr1:112947600-112954600	Weak transcription	NHEK	skin
48	chr1:112947600-112955200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr1:112947600-112955400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:112947800-112954600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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