Variant report

Variant	rs17173
Chromosome Location	chr7:104524466-104524467
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:104523544..104525271-chr7:104558660..104559768,6	MCF-7	breast:
2	chr7:104523873..104524762-chr7:104976177..104976740,2	K562	blood:
3	chr7:104523003..104525584-chr7:105230453..105233041,2	K562	blood:
4	chr7:104523014..104525633-chr7:104652582..104654103,2	MCF-7	breast:
5	chr7:104523974..104524675-chr7:104558772..104559696,2	MCF-7	breast:
6	chr7:104523347..104526293-chr7:104526937..104529454,4	K562	blood:
7	chr7:104523942..104525943-chr7:104535712..104537774,2	K562	blood:
8	chr7:104524458..104526068-chr7:104657025..104659232,2	K562	blood:
9	chr7:104523788..104524761-chr7:104558250..104559942,9	K562	blood:
10	chr7:104523961..104524718-chr7:104546923..104547448,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000228393	Chromatin interaction
ENSG00000185055	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1075228	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13232695	0.83[TSI][hapmap]
rs2041830	0.81[TSI][hapmap]
rs2430482	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73184020	0.91[AFR][1000 genomes];1.00[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	nsv831086	chr7:104422503-104596766	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv981792	chr7:104524351-104538104	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17173	EPHB4	cis	parietal	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104523600-104524600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:104523600-104524600	Active TSS	Stomach Smooth Muscle	stomach
3	chr7:104523600-104524800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:104523600-104524800	Enhancers	Primary hematopoietic stem cells	blood
5	chr7:104523600-104524800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr7:104523600-104524800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:104523600-104524800	Enhancers	Fetal Kidney	kidney
8	chr7:104523800-104524600	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:104523800-104524600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr7:104523800-104524600	Enhancers	Brain Angular Gyrus	brain
11	chr7:104523800-104524600	Enhancers	HSMM	muscle
12	chr7:104523800-104524800	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:104523800-104524800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:104523800-104524800	Flanking Active TSS	K562	blood
15	chr7:104523800-104524800	Enhancers	Osteobl	bone
16	chr7:104523800-104525000	Enhancers	Fetal Stomach	stomach
17	chr7:104523800-104526600	Enhancers	Fetal Muscle Leg	muscle
18	chr7:104524000-104524600	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:104524000-104524600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr7:104524000-104524600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr7:104524000-104524600	Active TSS	Right Ventricle	heart
22	chr7:104524000-104524600	Enhancers	Small Intestine	intestine
23	chr7:104524000-104524600	Enhancers	NHEK	skin
24	chr7:104524000-104524800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr7:104524000-104524800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:104524000-104524800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr7:104524000-104524800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:104524000-104524800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:104524000-104524800	Flanking Active TSS	Brain Hippocampus Middle	brain
30	chr7:104524000-104524800	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr7:104524000-104524800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:104524000-104524800	Enhancers	Sigmoid Colon	Sigmoid Colon
33	chr7:104524000-104524800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr7:104524000-104524800	Enhancers	HMEC	breast
35	chr7:104524000-104524800	Enhancers	NH-A	brain
36	chr7:104524000-104524800	Enhancers	NHDF-Ad	bronchial
37	chr7:104524000-104524800	Enhancers	NHLF	lung
38	chr7:104524000-104525000	Enhancers	Placenta	Placenta
39	chr7:104524000-104525400	Enhancers	Brain Substantia Nigra	brain
40	chr7:104524000-104525400	Enhancers	Fetal Lung	lung
41	chr7:104524200-104524600	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr7:104524200-104524600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr7:104524200-104524600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr7:104524200-104524600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:104524200-104524600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr7:104524200-104524600	Enhancers	Aorta	Aorta
47	chr7:104524200-104524600	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr7:104524200-104524600	Active TSS	Rectal Smooth Muscle	rectum
49	chr7:104524200-104524600	Weak transcription	Right Atrium	heart
50	chr7:104524200-104524600	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links