Variant report

Variant	rs17169592
Chromosome Location	chr7:16730542-16730543
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:16722765..16725452-chr7:16729104..16731668,3	MCF-7	breast:
2	chr7:16684839..16687421-chr7:16728970..16731717,2	K562	blood:
3	chr7:16729664..16732572-chr7:16733703..16735363,2	MCF-7	breast:
4	chr7:16724858..16726844-chr7:16729194..16731450,2	K562	blood:
5	chr7:16683710..16686673-chr7:16728285..16732113,3	MCF-7	breast:
6	chr7:16683787..16685501-chr7:16729552..16732176,2	K562	blood:
7	chr7:16725335..16727917-chr7:16729194..16732446,3	K562	blood:

Variant related genes	Relation type
ENSG00000136261	Chromatin interaction
ENSG00000106524	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17626550	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6975568	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7777674	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS 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	31 gene(s)	inside rSNPs	diseases
4	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv464397	chr7:16709708-16782767	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv606338	chr7:16709708-16782767	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv887760	chr7:16714974-16776257	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17169592	TWISTNB	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16686800-16734400	Weak transcription	Lung	lung
2	chr7:16697800-16734400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:16697800-16736400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:16697800-16736400	Weak transcription	Fetal Brain Male	brain
5	chr7:16701200-16734000	Weak transcription	Esophagus	oesophagus
6	chr7:16701200-16736200	Weak transcription	Pancreas	Pancrea
7	chr7:16701200-16736600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:16701800-16752800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:16702400-16734400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:16702600-16734400	Weak transcription	Spleen	Spleen
11	chr7:16704200-16737600	Weak transcription	Aorta	Aorta
12	chr7:16708200-16737400	Weak transcription	Brain Substantia Nigra	brain
13	chr7:16708400-16730800	Weak transcription	Stomach Mucosa	stomach
14	chr7:16708400-16736200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr7:16708800-16747800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:16710200-16752400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr7:16710400-16730800	Weak transcription	NHLF	lung
18	chr7:16711400-16730800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr7:16712400-16737400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:16714000-16737200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:16714000-16741800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:16714000-16747200	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:16714000-16748400	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr7:16715400-16736200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr7:16715800-16734400	Weak transcription	Right Ventricle	heart
26	chr7:16715800-16734600	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr7:16716600-16735400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr7:16718000-16734400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr7:16719200-16733000	Strong transcription	NH-A	brain
30	chr7:16719200-16741800	Strong transcription	A549	lung
31	chr7:16719200-16746800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr7:16719600-16734400	Weak transcription	Colonic Mucosa	Colon
33	chr7:16720200-16735000	Weak transcription	Fetal Kidney	kidney
34	chr7:16720200-16736600	Weak transcription	Fetal Brain Female	brain
35	chr7:16720800-16731800	Strong transcription	HSMM	muscle
36	chr7:16720800-16748800	Strong transcription	Placenta	Placenta
37	chr7:16721400-16730800	Weak transcription	Gastric	stomach
38	chr7:16722000-16730800	Weak transcription	Ovary	ovary
39	chr7:16722000-16737600	Weak transcription	Psoas Muscle	Psoas
40	chr7:16722200-16730800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr7:16722200-16730800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:16722200-16736400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr7:16722400-16730800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr7:16722800-16736800	Weak transcription	Brain Angular Gyrus	brain
45	chr7:16723400-16736200	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:16723800-16734000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr7:16723800-16734400	Weak transcription	Colon Smooth Muscle	Colon
48	chr7:16724000-16735400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr7:16724000-16735600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr7:16724600-16747200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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