Variant report

Variant	rs17345313
Chromosome Location	chr16:71508023-71508024
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71494305..71497217-chr16:71506576..71508496,2	MCF-7	breast:
2	chr16:71506966..71508827-chr16:71510994..71513448,2	MCF-7	breast:
3	chr16:71507450..71511299-chr16:71511883..71513820,5	K562	blood:
4	chr16:71501449..71503485-chr16:71506644..71509669,3	MCF-7	breast:
5	chr16:71494025..71497980-chr16:71506815..71510228,4	K562	blood:
6	chr16:71498533..71500835-chr16:71506756..71508900,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157429	Chromatin interaction
ENSG00000247324	Chromatin interaction
ENSG00000167377	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10500560	0.82[CHB][hapmap]
rs11645598	0.82[CHB][hapmap]
rs12446005	0.82[CHB][hapmap]
rs1345868	0.82[CHB][hapmap]
rs34680964	0.82[CHB][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949461	chr16:71196153-71579711	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17345313	ZNF19,ZNF23	cis	brain	BrainEAC
rs17345313	MARVELD3	cis	multi-tissue	Pritchard

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71496400-71509400	Weak transcription	Small Intestine	intestine
2	chr16:71496600-71508400	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr16:71496600-71508400	Weak transcription	Placenta	Placenta
4	chr16:71496600-71509200	Weak transcription	Fetal Intestine Large	intestine
5	chr16:71496600-71509400	Weak transcription	Colonic Mucosa	Colon
6	chr16:71496600-71509400	Weak transcription	Esophagus	oesophagus
7	chr16:71496600-71509400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:71496600-71511400	Weak transcription	Pancreas	Pancrea
9	chr16:71496800-71508400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:71496800-71508600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr16:71496800-71508600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr16:71496800-71508600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr16:71496800-71508800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr16:71496800-71508800	Weak transcription	Primary T cells from cord blood	blood
15	chr16:71496800-71508800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr16:71496800-71508800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:71496800-71508800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr16:71496800-71509000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr16:71496800-71509200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr16:71496800-71509400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr16:71496800-71509400	Weak transcription	Psoas Muscle	Psoas
22	chr16:71496800-71512000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr16:71496800-71512200	Weak transcription	Fetal Intestine Small	intestine
24	chr16:71497000-71508400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:71497000-71508600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr16:71497000-71511800	Weak transcription	Brain Substantia Nigra	brain
27	chr16:71497000-71517400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr16:71497000-71517400	Weak transcription	Fetal Heart	heart
29	chr16:71497000-71517600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr16:71497200-71508400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr16:71497200-71508600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:71497200-71508600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr16:71497200-71509000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr16:71497200-71509200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr16:71497200-71509400	Weak transcription	Colon Smooth Muscle	Colon
36	chr16:71497200-71509400	Weak transcription	Lung	lung
37	chr16:71497400-71508800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr16:71497400-71509000	Weak transcription	Right Ventricle	heart
39	chr16:71497400-71509200	Weak transcription	Primary B cells from cord blood	blood
40	chr16:71497400-71509200	Weak transcription	Brain Angular Gyrus	brain
41	chr16:71497400-71509200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr16:71497400-71509200	Weak transcription	HepG2	liver
43	chr16:71497400-71509600	Weak transcription	Gastric	stomach
44	chr16:71497400-71509800	Weak transcription	Spleen	Spleen
45	chr16:71500600-71508200	Weak transcription	Primary hematopoietic stem cells	blood
46	chr16:71502800-71517400	Weak transcription	Dnd41	blood
47	chr16:71503400-71509000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr16:71503600-71509200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr16:71503800-71509400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr16:71504000-71509400	Weak transcription	Fetal Lung	lung

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