Variant report

Variant	rs12094050
Chromosome Location	chr1:174913764-174913765
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	chr1:174909477..174911004-chr1:174913375..174915350,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10912851	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12057161	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12066421	0.85[AFR][1000 genomes]
rs12070082	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12076591	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12084999	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12095683	0.90[AMR][1000 genomes]
rs2981891	0.90[AMR][1000 genomes]
rs74128516	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755184	chr1:174388343-174970343	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv1794782	chr1:174900761-174925112	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174874200-174938200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:174876800-174933600	Weak transcription	Aorta	Aorta
3	chr1:174899800-174915200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:174901000-174922200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:174908000-174914600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:174908000-174926600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:174908000-174932400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr1:174908200-174914000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr1:174908200-174914200	Weak transcription	Small Intestine	intestine
10	chr1:174908200-174914800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:174908200-174915200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:174908200-174924200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:174908600-174927400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr1:174908800-174932200	Weak transcription	Primary T cells from cord blood	blood
15	chr1:174909800-174913800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:174910000-174916000	Enhancers	Fetal Intestine Large	intestine
17	chr1:174910400-174922400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:174910400-174932400	Weak transcription	HSMMtube	muscle
19	chr1:174910600-174914800	Weak transcription	K562	blood
20	chr1:174910800-174925800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr1:174910800-174957000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:174911400-174915000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:174912200-174913800	Enhancers	Lung	lung
24	chr1:174912200-174914000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr1:174912200-174918400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:174912200-174925400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:174912400-174913800	Genic enhancers	Fetal Intestine Small	intestine
28	chr1:174912400-174913800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:174912400-174914200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:174912400-174914200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr1:174912400-174914200	Weak transcription	Fetal Lung	lung
32	chr1:174912400-174922400	Weak transcription	Right Atrium	heart
33	chr1:174912400-174922600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:174912400-174923800	Weak transcription	Gastric	stomach
35	chr1:174912600-174914000	Weak transcription	Brain Anterior Caudate	brain
36	chr1:174912600-174914200	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:174912600-174914200	Weak transcription	Brain Substantia Nigra	brain
38	chr1:174912600-174914600	Weak transcription	Stomach Mucosa	stomach
39	chr1:174912600-174914800	Weak transcription	Primary B cells from cord blood	blood
40	chr1:174912600-174914800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr1:174912600-174914800	Weak transcription	Fetal Kidney	kidney
42	chr1:174912600-174914800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr1:174912600-174918600	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr1:174912600-174921800	Weak transcription	Primary B cells from peripheral blood	blood
45	chr1:174912600-174922600	Weak transcription	Brain Angular Gyrus	brain
46	chr1:174912600-174923800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:174912600-174934800	Weak transcription	Left Ventricle	heart
48	chr1:174913000-174914000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr1:174913000-174915400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr1:174913200-174913800	Enhancers	Pancreas	Pancrea

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