Variant report

Variant	rs10249842
Chromosome Location	chr7:102918755-102918756
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:1)
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	chr7:102918709-102918759	NHBE	bronchial:	n/a
2	chr7:102918709-102918759	SK-N-SH	brain:	n/a
3	chr7:102918709-102918759	HCF	heart:	n/a
4	chr7:102918709-102918759	HRPEpiC	eye:	n/a
5	chr7:102918709-102918759	HRCEpiC	kidney:	n/a
6	chr7:102918709-102918759	HAEpiC	amniotic membrane:	n/a
7	chr7:102918709-102918759	T-47D	breast:	n/a
8	chr7:102918709-102918759	NH-A	brain:	n/a
9	chr7:102918709-102918759	GM12892	blood:	n/a
10	chr7:102918709-102918759	GM12891	blood:	n/a
11	chr7:102918709-102918759	MCF10A-Er-Src	breast:	n/a
12	chr7:102918709-102918759	Hela-S3	cervix:	n/a
13	chr7:102918709-102918759	HMEC	breast:	n/a
14	chr7:102918709-102918759	HL-60	blood:	n/a
15	chr7:102918709-102918759	GM19239	blood:	n/a
16	chr7:102918709-102918759	PrEC	prostate:	n/a
17	chr7:102918709-102918759	H1-hESC	embryonic stem cell:	embryo
18	chr7:102918709-102918759	BE2_C	brain:	n/a
19	chr7:102918709-102918759	HCPEpiC	choroid plexus:	n/a
20	chr7:102918709-102918759	AoSMC	blood vessel:	n/a
21	chr7:102918709-102918759	AG09319	gingival:	n/a
22	chr7:102918709-102918759	AG04450	lung:	fetal
23	chr7:102918709-102918759	GM06990	blood:	n/a
24	chr7:102918709-102918759	CMK	blood:	n/a
25	chr7:102918709-102918759	ovcar-3	ovarian:	n/a
26	chr7:102918709-102918759	Hepatocyte	liver:	n/a
27	chr7:102918709-102918759	HRE	kidney:	n/a
28	chr7:102918709-102918759	NT2-D1	testis:	n/a
29	chr7:102918709-102918759	HEEpiC	esophagus:	n/a
30	chr7:102918709-102918759	PFSK-1	brain:	n/a
31	chr7:102918709-102918759	A549	lung:	n/a
32	chr7:102918709-102918759	HPAEpiC	pulmonary alveolar:	n/a
33	chr7:102918709-102918759	BJ	skin:	n/a
34	chr7:102918709-102918759	Jurkat	blood:	n/a
35	chr7:102918709-102918759	ProgFib	skin:	n/a
36	chr7:102918709-102918759	HCM	heart:	n/a
37	chr7:102918709-102918759	AG04449	skin:	fetal
38	chr7:102918709-102918759	HEK293	kidney:	embryo
39	chr7:102918709-102918759	HCT-116	colon:	n/a
40	chr7:102918709-102918759	K562	blood:	n/a
41	chr7:102918709-102918759	SK-N-SH_RA	brain:	n/a
42	chr7:102918709-102918759	HepG2	liver:	n/a
43	chr7:102918709-102918759	PANC-1	pancreas:	n/a
44	chr7:102918709-102918759	SK-N-MC	brain:	n/a
45	chr7:102918709-102918759	HUVEC	blood vessel:	n/a
46	chr7:102918709-102918759	LNCaP	prostate:	n/a
47	chr7:102918709-102918759	NB4	blood:	n/a
48	chr7:102918709-102918759	HIPEpiC	eye:	n/a
49	chr7:102918709-102918759	ECC-1	luminal epithelium:	n/a
50	chr7:102918709-102918759	HNPCEpiC	eye:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NAPEPLD-5	chr7:102918669-102918793	NONHSAT122547

No data

Variant related genes	Relation type
DPY19L2P2	CpG island

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10233506	1.00[AMR][1000 genomes]
rs10248567	1.00[AMR][1000 genomes]
rs10250825	0.85[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10270034	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28730338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6954333	0.93[AFR][1000 genomes]
rs6976639	1.00[AMR][1000 genomes]
rs7788867	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7806691	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv831084	chr7:102778908-102964970	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv1794417	chr7:102814101-102928545	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv981567	chr7:102850992-102924834	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102907400-102919400	Weak transcription	Fetal Brain Male	brain
2	chr7:102907800-102919600	Weak transcription	Fetal Thymus	thymus
3	chr7:102907800-102920000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:102909400-102920200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:102910600-102919600	Weak transcription	Fetal Stomach	stomach
6	chr7:102912800-102918800	Weak transcription	Fetal Brain Female	brain
7	chr7:102913000-102919600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:102913000-102920000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:102915600-102919400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:102915600-102920200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr7:102918200-102918800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:102918400-102919000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr7:102918400-102919000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:102918400-102919800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr7:102918400-102921400	Active TSS	GM12878-XiMat	blood
16	chr7:102918600-102918800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:102918600-102918800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr7:102918600-102918800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr7:102918600-102918800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr7:102918600-102918800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr7:102918600-102918800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr7:102918600-102918800	Enhancers	Brain Anterior Caudate	brain
23	chr7:102918600-102918800	Enhancers	Ovary	ovary
24	chr7:102918600-102919000	Transcr. at gene 5' and 3'	Dnd41	blood
25	chr7:102918600-102919600	Weak transcription	Brain Germinal Matrix	brain

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