Variant report

Variant	rs73005429
Chromosome Location	chr1:154719722-154719723
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:154719291..154722049-chr1:154723977..154728568,4	MCF-7	breast:
2	chr1:154714872..154716594-chr1:154719599..154721330,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1395561	1.00[AMR][1000 genomes]
rs16836381	1.00[AMR][1000 genomes]
rs55799808	1.00[AMR][1000 genomes]
rs6656385	1.00[AMR][1000 genomes]
rs6657775	1.00[AMR][1000 genomes]
rs6681539	1.00[AMR][1000 genomes]
rs6682049	1.00[AMR][1000 genomes]
rs6699247	1.00[AMR][1000 genomes]
rs6703251	1.00[AMR][1000 genomes]
rs73005428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73005493	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73005497	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73007703	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74115892	1.00[AMR][1000 genomes]
rs74116261	1.00[AMR][1000 genomes]
rs74119104	1.00[AMR][1000 genomes]

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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
3	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154704800-154723800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:154713800-154721400	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr1:154714200-154720200	Enhancers	Fetal Thymus	thymus
4	chr1:154714400-154720000	Enhancers	Thymus	Thymus
5	chr1:154714800-154720800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr1:154715400-154721600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:154715600-154721400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:154715800-154725200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr1:154716200-154720800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:154716400-154721400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:154716600-154721000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:154716600-154721400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:154716600-154721400	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:154716800-154720000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:154716800-154721600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:154717000-154720000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr1:154717000-154720200	Enhancers	Primary T cells fromperipheralblood	blood
18	chr1:154717000-154720200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr1:154717000-154732800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:154717200-154720000	Weak transcription	Brain Germinal Matrix	brain
21	chr1:154717200-154720200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr1:154717400-154720000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr1:154717400-154720200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:154717800-154720200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:154717800-154720400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr1:154718000-154721000	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:154718000-154722200	Enhancers	Brain Anterior Caudate	brain
28	chr1:154718000-154727600	Weak transcription	Psoas Muscle	Psoas
29	chr1:154718200-154719800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:154718200-154719800	Weak transcription	Small Intestine	intestine
31	chr1:154718200-154721800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:154718400-154719800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:154718400-154720400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
34	chr1:154718600-154720200	Enhancers	Brain Hippocampus Middle	brain
35	chr1:154718600-154720400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr1:154718800-154720000	Bivalent Enhancer	Colonic Mucosa	Colon
37	chr1:154718800-154720200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:154719000-154719800	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr1:154719000-154721200	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr1:154719000-154721600	Enhancers	Primary hematopoietic stem cells	blood
41	chr1:154719200-154720200	Enhancers	Fetal Kidney	kidney
42	chr1:154719200-154720200	Bivalent Enhancer	Rectal Smooth Muscle	rectum
43	chr1:154719200-154720200	Enhancers	HSMMtube	muscle
44	chr1:154719200-154720400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:154719200-154720600	Enhancers	Primary B cells from cord blood	blood
46	chr1:154719200-154720600	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr1:154719200-154720600	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr1:154719200-154720800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:154719200-154720800	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr1:154719200-154721200	Enhancers	Fetal Brain Female	brain

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