Variant report

Variant	rs193048561
Chromosome Location	chr2:173289719-173289720
allele	C/T
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:1)
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	chr2:173289719-173289769	Caco-2	colon:	n/a
2	chr2:173289719-173289769	HEK293	kidney:	embryo
3	chr2:173289719-173289769	Jurkat	blood:	n/a
4	chr2:173289719-173289769	ovcar-3	ovarian:	n/a
5	chr2:173289719-173289769	AoSMC	blood vessel:	n/a
6	chr2:173289719-173289769	BE2_C	brain:	n/a
7	chr2:173289719-173289769	GM12891	blood:	n/a
8	chr2:173289719-173289769	PANC-1	pancreas:	n/a
9	chr2:173289719-173289769	H1-hESC	embryonic stem cell:	embryo
10	chr2:173289719-173289769	HIPEpiC	eye:	n/a
11	chr2:173289719-173289769	AG04449	skin:	fetal
12	chr2:173289719-173289769	BJ	skin:	n/a
13	chr2:173289719-173289769	PrEC	prostate:	n/a
14	chr2:173289719-173289769	GM12878	blood:	n/a
15	chr2:173289719-173289769	NB4	blood:	n/a
16	chr2:173289719-173289769	T-47D	breast:	n/a
17	chr2:173289719-173289769	HRPEpiC	eye:	n/a
18	chr2:173289719-173289769	AG10803	skin:	n/a
19	chr2:173289719-173289769	Hela-S3	cervix:	n/a
20	chr2:173289719-173289769	MCF-7	breast:	n/a
21	chr2:173289719-173289769	HCM	heart:	n/a
22	chr2:173289719-173289769	LNCaP	prostate:	n/a
23	chr2:173289719-173289769	IMR90	lung:	fetal
24	chr2:173289719-173289769	HCF	heart:	n/a
25	chr2:173289719-173289769	A549	lung:	n/a
26	chr2:173289719-173289769	RPTEC	kidney:	n/a
27	chr2:173289719-173289769	NHBE	bronchial:	n/a
28	chr2:173289719-173289769	HEEpiC	esophagus:	n/a
29	chr2:173289719-173289769	HPAEpiC	pulmonary alveolar:	n/a
30	chr2:173289719-173289769	HepG2	liver:	n/a
31	chr2:173289719-173289769	HMEC	breast:	n/a
32	chr2:173289719-173289769	PFSK-1	brain:	n/a
33	chr2:173289719-173289769	HCT-116	colon:	n/a
34	chr2:173289719-173289769	NT2-D1	testis:	n/a
35	chr2:173289719-173289769	SK-N-MC	brain:	n/a
36	chr2:173289719-173289769	HRE	kidney:	n/a
37	chr2:173289719-173289769	GM12892	blood:	n/a
38	chr2:173289719-173289769	SK-N-SH_RA	brain:	n/a
39	chr2:173289719-173289769	HCPEpiC	choroid plexus:	n/a
40	chr2:173289719-173289769	AG09319	gingival:	n/a
41	chr2:173289719-173289769	SK-N-SH	brain:	n/a
42	chr2:173289719-173289769	SAEC	small airway:	n/a
43	chr2:173289719-173289769	HRCEpiC	kidney:	n/a
44	chr2:173289719-173289769	ProgFib	skin:	n/a
45	chr2:173289719-173289769	AG04450	lung:	fetal
46	chr2:173289719-173289769	K562	blood:	n/a
47	chr2:173289719-173289769	CMK	blood:	n/a
48	chr2:173289719-173289769	AG09309	skin:	n/a
49	chr2:173289719-173289769	MCF10A-Er-Src	breast:	n/a
50	chr2:173289719-173289769	GM06990	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173145139..173147717-chr2:173288396..173290436,2	MCF-7	breast:

No data

Variant related genes	Relation type
ITGA6	CpG island

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1847874	chr2:173277361-173308318	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583663	chr2:173287832-173307756	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv528899	chr2:173289239-173290395	Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv583664	chr2:173289239-173307756	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173274600-173290200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:173285200-173291800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr2:173285200-173291800	Enhancers	Fetal Thymus	thymus
4	chr2:173286600-173290400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:173287600-173290600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:173287800-173291000	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr2:173288200-173290400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:173288200-173290600	Weak transcription	Primary T cells from cord blood	blood
9	chr2:173288200-173290800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:173288400-173290200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:173288400-173290200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:173288400-173290400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:173288400-173290800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:173288400-173291000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:173288400-173291800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:173288600-173290600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr2:173288600-173290800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:173289000-173291600	Weak transcription	Adipose Nuclei	Adipose
19	chr2:173289400-173290200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:173289400-173291400	Weak transcription	NHEK	skin
21	chr2:173289600-173290800	Weak transcription	Thymus	Thymus

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