Variant report

Variant	rs17626550
Chromosome Location	chr7:16725088-16725089
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF217	chr7:16725086-16725408	MCF-7	breast:	n/a	n/a
2	GATA3	chr7:16725035-16725536	MCF-7	breast:	n/a	chr7:16725267-16725277
3	POLR2A	chr7:16724340-16725090	SK-N-MC	brain:	n/a	n/a
4	GATA1	chr7:16724344-16725567	PBDE	blood:	n/a	chr7:16724802-16724812 chr7:16725267-16725277
5	POLR2A	chr7:16725067-16725347	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:16684814..16687292-chr7:16724356..16726250,2	MCF-7	breast:
2	chr7:16722765..16725452-chr7:16729104..16731668,3	MCF-7	breast:
3	chr7:16724858..16726844-chr7:16729194..16731450,2	K562	blood:

Variant related genes	Relation type
BZW2	TF binding region
ENSG00000136261	Chromatin interaction
ENSG00000106524	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10499473	1.00[MEX][hapmap]
rs17169592	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs34542171	0.88[EUR][1000 genomes]
rs6961256	1.00[MEX][hapmap]
rs6975568	0.90[ASN][1000 genomes]

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

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16686800-16734400	Weak transcription	Lung	lung
2	chr7:16687600-16730400	Weak transcription	Thymus	Thymus
3	chr7:16697800-16734400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:16697800-16736400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:16697800-16736400	Weak transcription	Fetal Brain Male	brain
6	chr7:16701200-16734000	Weak transcription	Esophagus	oesophagus
7	chr7:16701200-16736200	Weak transcription	Pancreas	Pancrea
8	chr7:16701200-16736600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr7:16701800-16752800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr7:16702400-16734400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr7:16702600-16734400	Weak transcription	Spleen	Spleen
12	chr7:16704200-16737600	Weak transcription	Aorta	Aorta
13	chr7:16708200-16737400	Weak transcription	Brain Substantia Nigra	brain
14	chr7:16708400-16730800	Weak transcription	Stomach Mucosa	stomach
15	chr7:16708400-16736200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr7:16708800-16747800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:16710200-16752400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:16710400-16730800	Weak transcription	NHLF	lung
19	chr7:16711400-16730800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:16712400-16737400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:16712600-16729800	Strong transcription	K562	blood
22	chr7:16713800-16726000	Strong transcription	Fetal Intestine Large	intestine
23	chr7:16714000-16726000	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr7:16714000-16726200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr7:16714000-16737200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:16714000-16741800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:16714000-16747200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr7:16714000-16748400	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr7:16714400-16728400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:16714600-16726400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr7:16715200-16725200	Weak transcription	HSMMtube	muscle
32	chr7:16715400-16736200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:16715800-16734400	Weak transcription	Right Ventricle	heart
34	chr7:16715800-16734600	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:16716600-16735400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr7:16718000-16734400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:16718600-16728200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr7:16718600-16730400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:16719000-16726000	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:16719000-16726400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr7:16719200-16726200	Strong transcription	Duodenum Mucosa	Duodenum
42	chr7:16719200-16728200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:16719200-16733000	Strong transcription	NH-A	brain
44	chr7:16719200-16741800	Strong transcription	A549	lung
45	chr7:16719200-16746800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr7:16719600-16734400	Weak transcription	Colonic Mucosa	Colon
47	chr7:16720200-16735000	Weak transcription	Fetal Kidney	kidney
48	chr7:16720200-16736600	Weak transcription	Fetal Brain Female	brain
49	chr7:16720400-16727800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr7:16720600-16726200	Strong transcription	Rectal Mucosa Donor 29	rectum

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