Variant report

Variant	rs3757507
Chromosome Location	chr7:102936409-102936410
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:3)
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	chr7:102936381-102936431	HRE	kidney:	n/a
2	chr7:102936381-102936431	HMEC	breast:	n/a
3	chr7:102936381-102936431	LNCaP	prostate:	n/a
4	chr7:102936381-102936431	GM06990	blood:	n/a
5	chr7:102936381-102936431	PrEC	prostate:	n/a
6	chr7:102936381-102936431	HNPCEpiC	eye:	n/a
7	chr7:102936381-102936431	HIPEpiC	eye:	n/a
8	chr7:102936381-102936431	NHDF-neo	bronchial:	n/a
9	chr7:102936381-102936431	PFSK-1	brain:	n/a
10	chr7:102936381-102936431	NH-A	brain:	n/a
11	chr7:102936381-102936431	GM12878	blood:	n/a
12	chr7:102936381-102936431	NHBE	bronchial:	n/a
13	chr7:102936381-102936431	HRPEpiC	eye:	n/a
14	chr7:102936381-102936431	SKMC	muscle:	n/a
15	chr7:102936381-102936431	HEK293	kidney:	embryo
16	chr7:102936381-102936431	HCF	heart:	n/a
17	chr7:102936381-102936431	HUVEC	blood vessel:	n/a
18	chr7:102936381-102936431	RPTEC	kidney:	n/a
19	chr7:102936381-102936431	SK-N-SH_RA	brain:	n/a
20	chr7:102936381-102936431	H1-hESC	embryonic stem cell:	embryo
21	chr7:102936381-102936431	GM19239	blood:	n/a
22	chr7:102936381-102936431	NT2-D1	testis:	n/a
23	chr7:102936381-102936431	GM12892	blood:	n/a
24	chr7:102936381-102936431	AG04449	skin:	fetal
25	chr7:102936381-102936431	GM12891	blood:	n/a
26	chr7:102936381-102936431	HL-60	blood:	n/a
27	chr7:102936381-102936431	SAEC	small airway:	n/a
28	chr7:102936381-102936431	SK-N-SH	brain:	n/a
29	chr7:102936381-102936431	ovcar-3	ovarian:	n/a
30	chr7:102936381-102936431	ECC-1	luminal epithelium:	n/a
31	chr7:102936381-102936431	A549	lung:	n/a
32	chr7:102936381-102936431	Jurkat	blood:	n/a
33	chr7:102936381-102936431	HEEpiC	esophagus:	n/a
34	chr7:102936381-102936431	Caco-2	colon:	n/a
35	chr7:102936381-102936431	ProgFib	skin:	n/a
36	chr7:102936381-102936431	HPAEpiC	pulmonary alveolar:	n/a
37	chr7:102936381-102936431	NB4	blood:	n/a
38	chr7:102936381-102936431	HCPEpiC	choroid plexus:	n/a
39	chr7:102936381-102936431	SK-N-MC	brain:	n/a
40	chr7:102936381-102936431	T-47D	breast:	n/a
41	chr7:102936381-102936431	AG10803	skin:	n/a
42	chr7:102936381-102936431	HAEpiC	amniotic membrane:	n/a
43	chr7:102936381-102936431	HCT-116	colon:	n/a
44	chr7:102936381-102936431	CMK	blood:	n/a
45	chr7:102936381-102936431	HepG2	liver:	n/a
46	chr7:102936381-102936431	BJ	skin:	n/a
47	chr7:102936381-102936431	PANC-1	pancreas:	n/a
48	chr7:102936381-102936431	BE2_C	brain:	n/a
49	chr7:102936381-102936431	Hepatocyte	liver:	n/a
50	chr7:102936381-102936431	Hela-S3	cervix:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:102936363..102940498-chr7:102983696..102986201,5	K562	blood:
2	chr7:102788341..102791545-chr7:102935934..102939308,4	K562	blood:
3	chr7:102935903..102938136-chr7:102983489..102985608,2	MCF-7	breast:

No data

Variant related genes	Relation type
PMPCB	CpG island
ENSG00000161048	Chromatin interaction
ENSG00000161057	Chromatin interaction
ENSG00000105821	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10239962	0.88[EUR][1000 genomes]
rs4498476	1.00[MEX][hapmap]
rs57016147	0.84[AMR][1000 genomes];0.86[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	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	nsv1030446	chr7:102932689-103221638	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102931800-102937400	Weak transcription	Fetal Brain Male	brain
2	chr7:102932800-102937400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr7:102933200-102937400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:102933600-102937200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:102933600-102937400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr7:102935000-102937200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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