Variant report

Variant	rs7224214
Chromosome Location	chr17:38633134-38633135
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38604733..38607720-chr17:38631085..38633963,2	MCF-7	breast:
2	chr17:38632022..38634097-chr17:38707502..38709071,2	MCF-7	breast:
3	chr17:38629230..38633367-chr17:38687189..38689523,3	MCF-7	breast:
4	chr17:38626735..38629399-chr17:38631945..38633834,3	MCF-7	breast:
5	chr17:38632398..38634313-chr17:38645464..38649244,3	MCF-7	breast:
6	chr17:38629814..38633387-chr17:38676751..38679736,4	MCF-7	breast:
7	chr17:38632026..38634246-chr17:38667169..38669339,2	K562	blood:
8	chr17:38631712..38634059-chr17:38635172..38638034,2	K562	blood:
9	chr17:38618819..38620675-chr17:38632063..38634752,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000131746	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11652694	0.82[ASN][1000 genomes]
rs1666263	0.81[ASN][1000 genomes]
rs17557153	0.82[ASN][1000 genomes]
rs2122614	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35539439	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs475087	0.81[ASN][1000 genomes]
rs56308624	0.80[ASN][1000 genomes]
rs627857	0.81[ASN][1000 genomes]
rs7211995	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9303288	0.81[ASN][1000 genomes]
rs9893209	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833445	chr17:38466474-38637969	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38627200-38633400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr17:38627200-38633400	Enhancers	Ovary	ovary
3	chr17:38627400-38633200	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr17:38627400-38646200	Weak transcription	Gastric	stomach
5	chr17:38628800-38636400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:38630200-38635800	Weak transcription	Esophagus	oesophagus
7	chr17:38630200-38636200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr17:38630600-38633400	Enhancers	Fetal Muscle Trunk	muscle
9	chr17:38631000-38636800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:38631200-38636600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr17:38631600-38634600	Genic enhancers	A549	lung
12	chr17:38631800-38633400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr17:38631800-38633600	Genic enhancers	Placenta	Placenta
14	chr17:38631800-38633600	Enhancers	Fetal Thymus	thymus
15	chr17:38631800-38639600	Enhancers	Primary B cells from peripheral blood	blood
16	chr17:38632000-38633400	Enhancers	Right Ventricle	heart
17	chr17:38632000-38633600	Enhancers	Fetal Stomach	stomach
18	chr17:38632000-38633600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr17:38632000-38633800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr17:38632000-38637000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr17:38632000-38637000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:38632000-38639200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr17:38632200-38633600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr17:38632200-38633800	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr17:38632200-38633800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr17:38632400-38633200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:38632400-38633200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:38632400-38633600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr17:38632400-38635000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr17:38632400-38635800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr17:38632400-38635800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr17:38632400-38635800	Weak transcription	HepG2	liver
33	chr17:38632400-38636200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr17:38632400-38636200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr17:38632400-38636200	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr17:38632400-38636400	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr17:38632400-38636400	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr17:38632400-38636400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr17:38632400-38636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr17:38632400-38636800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr17:38632400-38636800	Weak transcription	Colonic Mucosa	Colon
42	chr17:38632400-38637000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr17:38632400-38639200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr17:38632400-38641000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:38632600-38633600	Enhancers	Primary B cells from cord blood	blood
46	chr17:38632600-38633600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr17:38632600-38635800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr17:38632800-38633200	Weak transcription	Hela-S3	cervix
49	chr17:38632800-38633600	Enhancers	Stomach Smooth Muscle	stomach
50	chr17:38632800-38634800	Weak transcription	Spleen	Spleen

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