Variant report

Variant	rs7700787
Chromosome Location	chr5:14269135-14269136
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14155881..14158811-chr5:14267142..14271683,5	MCF-7	breast:
2	chr5:14268388..14270560-chr5:14279679..14282134,3	MCF-7	breast:
3	chr5:14036740..14039261-chr5:14266762..14269658,3	MCF-7	breast:
4	chr5:13986931..13990201-chr5:14268952..14272276,3	MCF-7	breast:
5	chr5:14267248..14270111-chr5:14276512..14278649,2	K562	blood:
6	chr5:14268455..14270737-chr5:14277018..14279367,2	MCF-7	breast:
7	chr5:14142083..14147002-chr5:14262644..14273159,29	MCF-7	breast:
8	chr5:14262017..14264062-chr5:14267525..14269616,2	K562	blood:
9	chr5:14141187..14146160-chr5:14268118..14270576,7	MCF-7	breast:
10	chr5:14170726..14172536-chr5:14269048..14270770,2	MCF-7	breast:
11	chr5:14034068..14036123-chr5:14267082..14269872,2	MCF-7	breast:
12	chr5:14036353..14038493-chr5:14267240..14270155,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12659261	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs154150	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs154153	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs154154	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs154155	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs164859	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs164860	0.82[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs164862	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs164863	0.82[CHB][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs165083	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs165092	0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs165094	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs16903326	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16903338	0.95[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2440982	0.82[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs247142	0.80[CEU][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap];0.83[TSI][hapmap]
rs30603	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs30604	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs30605	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs30618	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs30621	0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.85[ASN][1000 genomes]
rs30626	0.81[ASN][1000 genomes]
rs30628	0.86[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs30629	0.80[CHD][hapmap];0.82[JPT][hapmap]
rs30630	0.82[ASN][1000 genomes]
rs30631	0.82[JPT][hapmap]
rs30634	0.81[ASN][1000 genomes]
rs354303	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs356026	0.81[ASN][1000 genomes]
rs356027	0.82[ASN][1000 genomes]
rs39857	0.80[CEU][hapmap]
rs42204	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs42405	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs42551	0.80[CEU][hapmap];0.87[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes]
rs56226439	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs67084079	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72744279	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7380307	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv830210	chr5:14255039-14431552	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7700787	LOC285696	cis	parietal	SCAN
rs7700787	FAM105B	cis	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14262200-14270800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:14265200-14271400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:14265200-14293000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr5:14265400-14269200	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr5:14265400-14269400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr5:14265400-14269400	Weak transcription	Fetal Intestine Small	intestine
7	chr5:14265400-14269400	Weak transcription	Fetal Lung	lung
8	chr5:14265400-14269600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:14265400-14270400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:14265400-14270600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr5:14265400-14270800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr5:14265400-14270800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:14265400-14270800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:14265400-14270800	Enhancers	Fetal Brain Male	brain
15	chr5:14265400-14271000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:14265400-14271200	Enhancers	NHLF	lung
17	chr5:14265400-14272200	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr5:14265400-14277200	Weak transcription	Thymus	Thymus
19	chr5:14265400-14284600	Weak transcription	Stomach Mucosa	stomach
20	chr5:14265400-14286600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:14265600-14270000	Weak transcription	Primary B cells from cord blood	blood
22	chr5:14265600-14270800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:14266000-14270000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
24	chr5:14266000-14270400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr5:14266000-14270800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr5:14266400-14269800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr5:14266400-14270600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr5:14266800-14270000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr5:14267000-14270400	Enhancers	Fetal Thymus	thymus
30	chr5:14267000-14271000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr5:14267000-14272600	Enhancers	HepG2	liver
32	chr5:14267400-14270400	Enhancers	Ovary	ovary
33	chr5:14267400-14270400	Flanking Active TSS	A549	lung
34	chr5:14267400-14270800	Enhancers	Fetal Muscle Leg	muscle
35	chr5:14267600-14269400	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr5:14267600-14269600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:14267600-14269800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr5:14267800-14269400	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr5:14268000-14269600	Flanking Active TSS	NH-A	brain
40	chr5:14268000-14270400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:14268000-14270400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr5:14268000-14270400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr5:14268000-14271000	Enhancers	Colon Smooth Muscle	Colon
44	chr5:14268200-14269200	Flanking Active TSS	Osteobl	bone
45	chr5:14268200-14269600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr5:14268200-14269800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:14268200-14270200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr5:14268200-14270400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:14268200-14270400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:14268200-14270400	Enhancers	Aorta	Aorta

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