Variant report

Variant	rs111718021
Chromosome Location	chr2:173291269-173291270
allele	A/G
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	MYC	chr2:173291184-173291298	MCF10A-Er-Src	breast:	n/a	n/a

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

Variant related genes	Relation type
ITGA6	TF binding region

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	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
6	esv3322868	chr2:173291131-173293679	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 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	chr2:173288400-173291800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:173289000-173291600	Weak transcription	Adipose Nuclei	Adipose
5	chr2:173289400-173291400	Weak transcription	NHEK	skin
6	chr2:173290200-173291400	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr2:173290200-173291400	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:173290200-173291600	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr2:173290200-173291600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr2:173290200-173291600	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr2:173290200-173291800	Enhancers	H1 Cell Line	embryonic stem cell
12	chr2:173290200-173291800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr2:173290200-173292000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
14	chr2:173290400-173291400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr2:173290400-173291400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr2:173290400-173291400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:173290400-173291800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr2:173290600-173291400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr2:173290600-173291600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr2:173290600-173291600	Enhancers	Primary T cells from cord blood	blood
21	chr2:173290600-173291800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:173290600-173291800	Weak transcription	Psoas Muscle	Psoas
23	chr2:173290800-173291600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:173290800-173291600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr2:173290800-173291600	Enhancers	Thymus	Thymus
26	chr2:173290800-173291800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:173290800-173291800	Enhancers	Primary T cells fromperipheralblood	blood
28	chr2:173290800-173291800	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr2:173291000-173291400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:173291000-173291600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
31	chr2:173291000-173291800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:173291200-173291400	Enhancers	Duodenum Mucosa	Duodenum
33	chr2:173291200-173291600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr2:173291200-173291600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr2:173291200-173292200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum

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