Variant report

Variant	rs543958051
Chromosome Location	chr2:173303630-173303631
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173294248..173297165-chr2:173302746..173304421,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	esv3458704	chr2:173302313-173304582	Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3458702	chr2:173302340-173304579	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	esv3458703	chr2:173302380-173304529	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	esv3458705	chr2:173302491-173304471	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173294800-173306400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:173294800-173308800	Enhancers	Stomach Mucosa	stomach
3	chr2:173295000-173303800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:173295200-173306600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:173295200-173306600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr2:173295600-173308600	Enhancers	Fetal Intestine Large	intestine
7	chr2:173296000-173305600	Weak transcription	Fetal Lung	lung
8	chr2:173296000-173307600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:173296200-173303800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:173296200-173305000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr2:173296200-173307600	Enhancers	Fetal Thymus	thymus
12	chr2:173296600-173308600	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:173297000-173306600	Enhancers	Small Intestine	intestine
14	chr2:173297000-173307600	Enhancers	Pancreas	Pancrea
15	chr2:173297200-173304800	Weak transcription	Fetal Kidney	kidney
16	chr2:173297400-173304000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:173297600-173307400	Enhancers	Spleen	Spleen
18	chr2:173298600-173304000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr2:173299200-173304000	Enhancers	Right Atrium	heart
20	chr2:173299200-173305000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
21	chr2:173299800-173304200	Enhancers	Psoas Muscle	Psoas
22	chr2:173300000-173303800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:173300200-173304600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:173300200-173307600	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:173300400-173305000	Enhancers	Lung	lung
26	chr2:173300400-173308000	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr2:173300600-173306600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr2:173300800-173304800	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:173301000-173308400	Enhancers	Fetal Intestine Small	intestine
30	chr2:173301200-173303800	Weak transcription	Right Ventricle	heart
31	chr2:173301200-173305600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr2:173301200-173305800	Weak transcription	Fetal Heart	heart
33	chr2:173301200-173308400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:173301400-173303800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr2:173301400-173304800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr2:173301400-173308400	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr2:173301600-173305000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr2:173301600-173305400	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:173301800-173304000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr2:173301800-173305600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr2:173301800-173305800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:173302000-173304800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:173302000-173305000	Transcr. at gene 5' and 3'	NHEK	skin
44	chr2:173302400-173303800	Enhancers	Placenta	Placenta
45	chr2:173302400-173303800	Flanking Active TSS	A549	lung
46	chr2:173302400-173304800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:173302400-173304800	Enhancers	Esophagus	oesophagus
48	chr2:173302400-173307600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr2:173302400-173308200	Enhancers	HepG2	liver
50	chr2:173302600-173303800	Enhancers	NH-A	brain

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