Variant report

Variant	rs190472550
Chromosome Location	chr2:173290427-173290428
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr2:173290092-173290475	H1-hESC	embryonic stem cell:	n/a	chr2:173290412-173290426
2	RAD21	chr2:173289913-173290435	HCT-116	colon:	n/a	chr2:173290412-173290426

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173290254..173291940-chr2:173293674..173296240,2	MCF-7	breast:
2	chr2:173145139..173147717-chr2:173288396..173290436,2	MCF-7	breast:

Variant related genes	Relation type
ITGA6	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173285200-173291800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr2:173285200-173291800	Enhancers	Fetal Thymus	thymus
3	chr2:173287600-173290600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:173287800-173291000	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:173288200-173290600	Weak transcription	Primary T cells from cord blood	blood
6	chr2:173288200-173290800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:173288400-173290800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:173288400-173291000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:173288400-173291800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:173288600-173290600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:173288600-173290800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:173289000-173291600	Weak transcription	Adipose Nuclei	Adipose
13	chr2:173289400-173291400	Weak transcription	NHEK	skin
14	chr2:173289600-173290800	Weak transcription	Thymus	Thymus
15	chr2:173290200-173290600	Enhancers	Rectal Mucosa Donor 29	rectum
16	chr2:173290200-173291400	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr2:173290200-173291400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr2:173290200-173291600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:173290200-173291600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:173290200-173291600	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr2:173290200-173291800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:173290200-173291800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:173290200-173292000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
24	chr2:173290400-173290800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr2:173290400-173291000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:173290400-173291400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr2:173290400-173291400	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:173290400-173291400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:173290400-173291800	Enhancers	Primary T killer naive cells fromperipheralblood	blood

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