Variant report

Variant	rs192212850
Chromosome Location	chr4:143437494-143437495
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:5)
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	chr4:143437493-143437543	NHBE	bronchial:	n/a
2	chr4:143437493-143437543	HCPEpiC	choroid plexus:	n/a
3	chr4:143437493-143437543	HepG2	liver:	n/a
4	chr4:143437493-143437543	MCF-7	breast:	n/a
5	chr4:143437493-143437543	HPAEpiC	pulmonary alveolar:	n/a
6	chr4:143437493-143437543	AG09309	skin:	n/a
7	chr4:143437493-143437543	PFSK-1	brain:	n/a
8	chr4:143437493-143437543	HCM	heart:	n/a
9	chr4:143437493-143437543	A549	lung:	n/a
10	chr4:143437493-143437543	NT2-D1	testis:	n/a
11	chr4:143437493-143437543	HNPCEpiC	eye:	n/a
12	chr4:143437493-143437543	ECC-1	luminal epithelium:	n/a
13	chr4:143437493-143437543	Caco-2	colon:	n/a
14	chr4:143437493-143437543	HEEpiC	esophagus:	n/a
15	chr4:143437493-143437543	Jurkat	blood:	n/a
16	chr4:143437493-143437543	GM12892	blood:	n/a
17	chr4:143437493-143437543	Hela-S3	cervix:	n/a
18	chr4:143437493-143437543	HRE	kidney:	n/a
19	chr4:143437493-143437543	IMR90	lung:	fetal
20	chr4:143437493-143437543	GM06990	blood:	n/a
21	chr4:143437493-143437543	HRPEpiC	eye:	n/a
22	chr4:143437493-143437543	SAEC	small airway:	n/a
23	chr4:143437493-143437543	HL-60	blood:	n/a
24	chr4:143437493-143437543	H1-hESC	embryonic stem cell:	embryo
25	chr4:143437493-143437543	CMK	blood:	n/a
26	chr4:143437493-143437543	SK-N-MC	brain:	n/a
27	chr4:143437493-143437543	BJ	skin:	n/a
28	chr4:143437493-143437543	Hepatocyte	liver:	n/a
29	chr4:143437493-143437543	AG09319	gingival:	n/a
30	chr4:143437493-143437543	HIPEpiC	eye:	n/a
31	chr4:143437493-143437543	NH-A	brain:	n/a
32	chr4:143437493-143437543	SK-N-SH_RA	brain:	n/a
33	chr4:143437493-143437543	GM19239	blood:	n/a
34	chr4:143437493-143437543	BE2_C	brain:	n/a
35	chr4:143437493-143437543	HRCEpiC	kidney:	n/a
36	chr4:143437493-143437543	HCF	heart:	n/a
37	chr4:143437493-143437543	PANC-1	pancreas:	n/a
38	chr4:143437493-143437543	AoSMC	blood vessel:	n/a
39	chr4:143437493-143437543	AG04449	skin:	fetal
40	chr4:143437493-143437543	ovcar-3	ovarian:	n/a
41	chr4:143437493-143437543	HMEC	breast:	n/a
42	chr4:143437493-143437543	MCF10A-Er-Src	breast:	n/a
43	chr4:143437493-143437543	U87	brain:	n/a
44	chr4:143437493-143437543	PrEC	prostate:	n/a
45	chr4:143437493-143437543	SKMC	muscle:	n/a
46	chr4:143437493-143437543	HAEpiC	amniotic membrane:	n/a
47	chr4:143437493-143437543	NB4	blood:	n/a
48	chr4:143437493-143437543	AG10803	skin:	n/a
49	chr4:143437493-143437543	HUVEC	blood vessel:	n/a
50	chr4:143437493-143437543	NHDF-neo	bronchial:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:143391320..143397090-chr4:143436268..143441588,7	MCF-7	breast:
2	chr4:143436540..143438888-chr4:143456433..143458379,2	MCF-7	breast:
3	chr4:143436234..143437895-chr4:143469778..143471517,2	MCF-7	breast:
4	chr4:143431692..143434414-chr4:143436305..143438204,2	MCF-7	breast:
5	chr4:143389462..143399452-chr4:143428707..143442488,28	MCF-7	breast:

No data

Variant related genes	Relation type
INPP4B	CpG island
ENSG00000109452	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv461660	chr4:143437219-143538179	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv595605	chr4:143437219-143538179	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143428800-143453000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:143431800-143437600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:143433400-143437600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:143434000-143437600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:143434000-143437600	Weak transcription	Osteobl	bone
6	chr4:143434000-143440600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:143436600-143438000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:143436600-143438800	Enhancers	HMEC	breast
9	chr4:143436600-143440000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:143436600-143440000	Enhancers	Dnd41	blood
11	chr4:143436800-143437600	Weak transcription	Left Ventricle	heart
12	chr4:143437200-143438800	Enhancers	NHEK	skin
13	chr4:143437200-143439000	Enhancers	Fetal Heart	heart
14	chr4:143437400-143438200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:143437400-143438200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:143437400-143438200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:143437400-143438600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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