Variant report

Variant	rs359659
Chromosome Location	chr7:127982527-127982528
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:127982470-127982832	HepG2	liver:	n/a	n/a
2	CBX3	chr7:127982284-127983287	K562	blood:	n/a	n/a
3	MAX	chr7:127982324-127983133	K562	blood:	n/a	chr7:127982921-127982931
4	MXI1	chr7:127982002-127984736	SK-N-SH	brain:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:127857539..127859442-chr7:127980846..127983357,2	K562	blood:
2	chr7:127980838..127984024-chr7:128045373..128047689,4	K562	blood:
3	chr7:127981986..127985324-chr7:128043786..128047324,3	K562	blood:
4	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
5	chr7:127982050..127985267-chr7:128038524..128041227,4	K562	blood:
6	chr7:127982503..127984019-chr7:128001306..128003128,2	MCF-7	breast:
7	chr7:127982483..127985267-chr7:128038524..128041227,3	K562	blood:
8	chr7:127982337..127986134-chr7:128031866..128036135,4	MCF-7	breast:
9	chr7:127982196..127985036-chr7:128048348..128051893,5	MCF-7	breast:
10	chr7:127981540..127985237-chr7:128094279..128097407,4	K562	blood:
11	chr7:127973213..127977895-chr7:127980902..127985287,5	MCF-7	breast:

No data

Variant related genes	Relation type
RNU7-27P	TF binding region
ENSG00000106344	Chromatin interaction
ENSG00000273184	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000224940	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs359663	0.86[AMR][1000 genomes]
rs4731441	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127953800-127982600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:127955800-127982800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:127976000-127982800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:127977200-127982800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:127977600-127983200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:127978800-127982600	Weak transcription	NH-A	brain
7	chr7:127979200-127982600	Weak transcription	Brain Anterior Caudate	brain
8	chr7:127979800-127982600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:127980000-127982600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:127980200-127982600	Weak transcription	Placenta	Placenta
11	chr7:127980600-127982600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr7:127980800-127982600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr7:127980800-127982800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr7:127981000-127982600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:127981200-127982800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr7:127981200-127982800	Enhancers	Liver	Liver
17	chr7:127981200-127982800	Enhancers	Brain Angular Gyrus	brain
18	chr7:127981200-127983200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr7:127981400-127982600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:127981400-127982600	Genic enhancers	Primary hematopoietic stem cells	blood
21	chr7:127981400-127982600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr7:127981400-127982600	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr7:127981400-127982600	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:127981400-127982600	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr7:127981400-127982600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr7:127981400-127982800	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr7:127981400-127982800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr7:127981400-127982800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr7:127981600-127982600	Enhancers	Fetal Stomach	stomach
30	chr7:127981600-127982800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr7:127981600-127983200	Flanking Active TSS	Dnd41	blood
32	chr7:127981800-127982600	Enhancers	Primary B cells from cord blood	blood
33	chr7:127981800-127982600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr7:127981800-127982800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr7:127981800-127983000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:127982000-127982600	Enhancers	Brain Cingulate Gyrus	brain
37	chr7:127982000-127982600	Enhancers	Fetal Kidney	kidney
38	chr7:127982000-127982600	Enhancers	Fetal Thymus	thymus
39	chr7:127982000-127982600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr7:127982000-127982600	Enhancers	Right Atrium	heart
41	chr7:127982000-127982600	Enhancers	Thymus	Thymus
42	chr7:127982000-127982600	Enhancers	HUVEC	blood vessel
43	chr7:127982000-127982800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr7:127982000-127982800	Enhancers	Colon Smooth Muscle	Colon
45	chr7:127982000-127982800	Enhancers	Fetal Muscle Leg	muscle
46	chr7:127982000-127982800	Enhancers	Left Ventricle	heart
47	chr7:127982000-127982800	Enhancers	Lung	lung
48	chr7:127982000-127983000	Enhancers	Primary B cells from peripheral blood	blood
49	chr7:127982000-127983000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:127982000-127983000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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