Variant report

Variant	rs10269268
Chromosome Location	chr7:16627411-16627412
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:16627383-16627433	GM06990	blood:	n/a
2	chr7:16627383-16627433	HIPEpiC	eye:	n/a
3	chr7:16627383-16627433	CMK	blood:	n/a
4	chr7:16627383-16627433	BE2_C	brain:	n/a
5	chr7:16627383-16627433	H1-hESC	embryonic stem cell:	embryo
6	chr7:16627383-16627433	HL-60	blood:	n/a
7	chr7:16627383-16627433	AG09319	gingival:	n/a
8	chr7:16627383-16627433	ProgFib	skin:	n/a
9	chr7:16627383-16627433	HCF	heart:	n/a
10	chr7:16627383-16627433	GM12892	blood:	n/a
11	chr7:16627383-16627433	ECC-1	luminal epithelium:	n/a
12	chr7:16627383-16627433	NHBE	bronchial:	n/a
13	chr7:16627383-16627433	PFSK-1	brain:	n/a
14	chr7:16627383-16627433	HMEC	breast:	n/a
15	chr7:16627383-16627433	HRE	kidney:	n/a
16	chr7:16627383-16627433	HNPCEpiC	eye:	n/a
17	chr7:16627383-16627433	HCPEpiC	choroid plexus:	n/a
18	chr7:16627383-16627433	MCF10A-Er-Src	breast:	n/a
19	chr7:16627383-16627433	IMR90	lung:	fetal
20	chr7:16627383-16627433	BJ	skin:	n/a
21	chr7:16627383-16627433	MCF-7	breast:	n/a
22	chr7:16627383-16627433	NT2-D1	testis:	n/a
23	chr7:16627383-16627433	SKMC	muscle:	n/a
24	chr7:16627383-16627433	HAEpiC	amniotic membrane:	n/a
25	chr7:16627383-16627433	NB4	blood:	n/a
26	chr7:16627383-16627433	HEEpiC	esophagus:	n/a
27	chr7:16627383-16627433	GM19239	blood:	n/a
28	chr7:16627383-16627433	HepG2	liver:	n/a
29	chr7:16627383-16627433	T-47D	breast:	n/a
30	chr7:16627383-16627433	AG09309	skin:	n/a
31	chr7:16627383-16627433	NHDF-neo	bronchial:	n/a
32	chr7:16627383-16627433	AoSMC	blood vessel:	n/a
33	chr7:16627383-16627433	HRCEpiC	kidney:	n/a
34	chr7:16627383-16627433	Caco-2	colon:	n/a
35	chr7:16627383-16627433	HRPEpiC	eye:	n/a
36	chr7:16627383-16627433	HCM	heart:	n/a
37	chr7:16627383-16627433	K562	blood:	n/a
38	chr7:16627383-16627433	AG10803	skin:	n/a
39	chr7:16627383-16627433	RPTEC	kidney:	n/a
40	chr7:16627383-16627433	Hela-S3	cervix:	n/a
41	chr7:16627383-16627433	HPAEpiC	pulmonary alveolar:	n/a
42	chr7:16627383-16627433	LNCaP	prostate:	n/a
43	chr7:16627383-16627433	SK-N-MC	brain:	n/a
44	chr7:16627383-16627433	Jurkat	blood:	n/a
45	chr7:16627383-16627433	AG04449	skin:	fetal
46	chr7:16627383-16627433	SK-N-SH_RA	brain:	n/a
47	chr7:16627383-16627433	NH-A	brain:	n/a
48	chr7:16627383-16627433	SAEC	small airway:	n/a
49	chr7:16627383-16627433	GM12891	blood:	n/a
50	chr7:16627383-16627433	HCT-116	colon:	n/a

No data

Variant related genes	Relation type
ENSG00000224280	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10247772	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10273896	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10274133	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10280874	0.82[CHB][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1044984	0.84[EUR][1000 genomes]
rs13228317	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs2286230	0.90[CHB][hapmap]
rs572570	0.85[JPT][hapmap]
rs6973195	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6973197	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7156	0.89[GIH][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs7796550	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7796676	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7801358	0.95[ASN][1000 genomes]
rs7802116	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[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	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16622200-16635000	Weak transcription	K562	blood
2	chr7:16624000-16645600	Weak transcription	Gastric	stomach
3	chr7:16626000-16638000	Weak transcription	Fetal Stomach	stomach
4	chr7:16626200-16627800	Enhancers	Fetal Brain Female	brain
5	chr7:16626200-16627800	Enhancers	Fetal Muscle Leg	muscle
6	chr7:16626400-16628600	Enhancers	Fetal Brain Male	brain
7	chr7:16626400-16639400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:16626600-16637800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:16626800-16630600	Enhancers	Fetal Heart	heart
10	chr7:16627000-16637800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:16627200-16627800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr7:16627200-16627800	Active TSS	Osteobl	bone
13	chr7:16627400-16627600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:16627400-16627600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:16627400-16627600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:16627400-16627600	Active TSS	Right Ventricle	heart
17	chr7:16627400-16627600	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr7:16627400-16627800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:16627400-16627800	Enhancers	Brain Angular Gyrus	brain
20	chr7:16627400-16627800	Enhancers	Brain Germinal Matrix	brain
21	chr7:16627400-16627800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr7:16627400-16628000	Enhancers	Adipose Nuclei	Adipose
23	chr7:16627400-16628000	Enhancers	Right Atrium	heart
24	chr7:16627400-16628200	Enhancers	Left Ventricle	heart
25	chr7:16627400-16628400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:16627400-16633800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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