Variant report

Variant	rs528255694
Chromosome Location	chr12:104378811-104378812
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	chr12:104364267..104367088-chr12:104376743..104378838,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3492219	chr12:104378512-104379462	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	esv2039358	chr12:104378529-104379505	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	esv6803	chr12:104378542-104379502	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	esv3394825	chr12:104378543-104379499	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	esv3426066	chr12:104378556-104379488	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	esv3442732	chr12:104378568-104379485	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
9	esv3492044	chr12:104378579-104379455	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	esv3492045	chr12:104378579-104379455	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
11	esv3492208	chr12:104378634-104379521	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
12	esv3428213	chr12:104378683-104379383	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
13	esv3492230	chr12:104378697-104379381	Strong transcription Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104360800-104381000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:104361200-104379400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:104361600-104385000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:104362000-104382600	Weak transcription	Esophagus	oesophagus
5	chr12:104362000-104384400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr12:104362000-104392800	Weak transcription	Fetal Brain Male	brain
7	chr12:104362200-104384800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:104363800-104382400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr12:104364000-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:104364600-104383800	Strong transcription	Dnd41	blood
11	chr12:104366600-104383600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr12:104366800-104380400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr12:104366800-104381600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:104367600-104381000	Strong transcription	GM12878-XiMat	blood
15	chr12:104368200-104380600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr12:104368800-104381000	Strong transcription	Primary hematopoietic stem cells	blood
17	chr12:104368800-104381600	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr12:104369200-104381000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:104369200-104381000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr12:104369200-104381000	Strong transcription	Stomach Smooth Muscle	stomach
21	chr12:104369200-104383800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr12:104369400-104380800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:104369400-104381000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:104369400-104381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr12:104369600-104381600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:104369800-104383600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr12:104370000-104379600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:104370000-104381600	Strong transcription	Fetal Thymus	thymus
29	chr12:104370200-104381000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr12:104370200-104381000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:104370200-104381000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:104370200-104384600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr12:104370400-104379800	Strong transcription	K562	blood
34	chr12:104370400-104380400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:104370400-104380800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:104370400-104381000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr12:104370400-104381000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr12:104370400-104381000	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr12:104370400-104381000	Strong transcription	HSMM	muscle
40	chr12:104370400-104381000	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr12:104370400-104383600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:104370400-104385000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:104370400-104385600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:104370600-104380000	Strong transcription	NH-A	brain
45	chr12:104370600-104380400	Strong transcription	Osteobl	bone
46	chr12:104370600-104380800	Strong transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:104370600-104380800	Strong transcription	HSMMtube	muscle
48	chr12:104370600-104381000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr12:104370600-104381000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr12:104370600-104381000	Strong transcription	Fetal Intestine Large	intestine

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