Variant report

Variant	rs41293029
Chromosome Location	chr1:84949141-84949142
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:84941357..84944267-chr1:84948285..84950079,2	MCF-7	breast:
2	chr1:84946525..84949349-chr1:84951021..84952787,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1395418	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17365681	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17365723	1.00[EUR][1000 genomes]
rs17374048	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17374753	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17540101	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs312403	1.00[EUR][1000 genomes]
rs41284589	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs41284591	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41284599	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41302796	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4512665	1.00[EUR][1000 genomes]
rs4907081	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72946368	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72946369	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72946390	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72948408	0.96[EUR][1000 genomes]
rs72948410	0.84[AFR][1000 genomes]
rs72948418	0.80[AFR][1000 genomes]
rs72948421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72948483	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830437	chr1:84837524-85001269	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84946000-84956400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:84946000-84956400	Weak transcription	Gastric	stomach
3	chr1:84946000-84956400	Weak transcription	Spleen	Spleen
4	chr1:84946000-84965800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:84946000-84967000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:84946000-84969600	Weak transcription	Esophagus	oesophagus
7	chr1:84946000-84970400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:84946000-84970800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:84946200-84949200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:84946200-84955200	Weak transcription	Right Ventricle	heart
11	chr1:84946200-84956200	Weak transcription	Colonic Mucosa	Colon
12	chr1:84946200-84962800	Weak transcription	HSMMtube	muscle
13	chr1:84946400-84949400	Weak transcription	NH-A	brain
14	chr1:84946400-84955200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:84946400-84955600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:84946400-84956200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:84946400-84956400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:84946400-84962000	Weak transcription	Fetal Brain Male	brain
19	chr1:84946400-84962800	Weak transcription	Stomach Mucosa	stomach
20	chr1:84946600-84950800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:84946600-84955600	Weak transcription	Brain Germinal Matrix	brain
22	chr1:84946600-84956400	Weak transcription	Psoas Muscle	Psoas
23	chr1:84946800-84955400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr1:84946800-84967400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:84947000-84950400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:84947000-84950400	Strong transcription	Placenta	Placenta
27	chr1:84947000-84953200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr1:84947000-84965800	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:84947200-84949200	Weak transcription	Adipose Nuclei	Adipose
30	chr1:84947200-84949200	Weak transcription	Fetal Intestine Large	intestine
31	chr1:84947200-84949200	Weak transcription	Thymus	Thymus
32	chr1:84947200-84949400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:84947200-84949600	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr1:84947200-84950000	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr1:84947200-84950200	Weak transcription	Fetal Brain Female	brain
36	chr1:84947200-84950400	Strong transcription	HSMM	muscle
37	chr1:84947200-84950600	Weak transcription	Fetal Muscle Leg	muscle
38	chr1:84947200-84951000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr1:84947200-84951200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:84947200-84951600	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr1:84947200-84951800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr1:84947200-84952000	Strong transcription	Fetal Thymus	thymus
43	chr1:84947200-84953800	Strong transcription	Primary B cells from cord blood	blood
44	chr1:84947200-84955400	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr1:84947200-84955600	Weak transcription	Pancreas	Pancrea
46	chr1:84947200-84955600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr1:84947200-84956400	Weak transcription	Brain Angular Gyrus	brain
48	chr1:84947200-84956400	Weak transcription	NHLF	lung
49	chr1:84947200-84958400	Weak transcription	Brain Hippocampus Middle	brain
50	chr1:84947400-84949200	Weak transcription	NHDF-Ad	bronchial

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