Variant report

Variant	rs34588788
Chromosome Location	chr14:31602666-31602667
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31601205..31602720-chr14:31611086..31613417,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000207440	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10130310	0.94[CEU][hapmap];0.81[TSI][hapmap]
rs12879653	0.93[CEU][hapmap]
rs12888536	0.87[EUR][1000 genomes]
rs33983486	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv901588	chr14:31595666-31639111	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3345810	chr14:31599017-31622767	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS 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
rs34588788	HECTD1	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31563800-31650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:31564800-31648600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:31566000-31627400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr14:31566200-31627000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:31566200-31635200	Strong transcription	Placenta	Placenta
7	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr14:31567000-31620200	Strong transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:31567000-31647600	Strong transcription	Duodenum Mucosa	Duodenum
10	chr14:31567000-31651200	Strong transcription	Dnd41	blood
11	chr14:31572800-31604600	Strong transcription	Fetal Intestine Large	intestine
12	chr14:31573000-31650200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:31573600-31608800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:31573800-31648200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:31576800-31623800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:31577200-31604000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr14:31588000-31623800	Weak transcription	Psoas Muscle	Psoas
18	chr14:31588600-31607600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:31591800-31656400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:31592400-31607200	Weak transcription	Fetal Heart	heart
21	chr14:31593600-31604600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:31593800-31648200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:31594400-31628600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:31594600-31604400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:31594600-31619800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr14:31595000-31649000	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:31595200-31602800	Strong transcription	Fetal Kidney	kidney
28	chr14:31595200-31605800	Strong transcription	HMEC	breast
29	chr14:31595200-31630200	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:31595800-31610000	Strong transcription	Fetal Thymus	thymus
31	chr14:31596600-31606600	Strong transcription	Hela-S3	cervix
32	chr14:31596800-31606000	Strong transcription	HSMM	muscle
33	chr14:31597000-31609800	Strong transcription	Primary B cells from cord blood	blood
34	chr14:31597000-31616200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr14:31597600-31648400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:31598000-31648200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr14:31598200-31609800	Strong transcription	Primary T cells from cord blood	blood
38	chr14:31598200-31633200	Strong transcription	HepG2	liver
39	chr14:31598200-31648000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:31598200-31651200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr14:31598400-31627200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr14:31598400-31633200	Strong transcription	Liver	Liver
43	chr14:31598400-31648000	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr14:31598600-31603000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:31598600-31604000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:31598600-31604000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:31598600-31605600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:31598600-31606200	Weak transcription	Aorta	Aorta
49	chr14:31598600-31613600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:31598600-31613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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