Variant report

Variant	rs72728629
Chromosome Location	chr1:93420950-93420951
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	chr1:93418758..93421387-chr1:93428230..93431121,2	MCF-7	breast:
2	chr1:93420417..93422302-chr1:93426239..93427942,2	K562	blood:

Variant related genes	Relation type
ENSG00000154511	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10735783	0.83[EUR][1000 genomes]
rs10735784	0.83[EUR][1000 genomes]
rs10782942	0.83[EUR][1000 genomes]
rs11164799	0.82[EUR][1000 genomes]
rs11164804	0.83[EUR][1000 genomes]
rs11164805	0.83[EUR][1000 genomes]
rs11164806	0.81[EUR][1000 genomes]
rs11164808	0.83[EUR][1000 genomes]
rs11164809	0.83[EUR][1000 genomes]
rs11164812	0.87[EUR][1000 genomes]
rs11164813	0.87[EUR][1000 genomes]
rs1182640	0.83[EUR][1000 genomes]
rs12029026	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1337108	0.83[EUR][1000 genomes]
rs1337109	0.83[EUR][1000 genomes]
rs1411706	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1610319	0.86[EUR][1000 genomes]
rs1932967	0.83[EUR][1000 genomes]
rs2025101	0.83[EUR][1000 genomes]
rs2107520	0.83[EUR][1000 genomes]
rs2107521	0.83[EUR][1000 genomes]
rs2158446	0.83[EUR][1000 genomes]
rs2180977	0.83[EUR][1000 genomes]
rs2244005	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2244496	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2244588	0.87[EUR][1000 genomes]
rs2298912	0.83[EUR][1000 genomes]
rs2391179	0.83[EUR][1000 genomes]
rs2391194	0.83[EUR][1000 genomes]
rs2391196	0.83[EUR][1000 genomes]
rs2774940	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2774941	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2774943	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2774947	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811599	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811602	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2989014	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35054144	0.83[EUR][1000 genomes]
rs3790445	0.83[EUR][1000 genomes]
rs3790446	0.83[EUR][1000 genomes]
rs4240962	0.83[EUR][1000 genomes]
rs4264007	0.83[EUR][1000 genomes]
rs4525050	0.83[EUR][1000 genomes]
rs4638137	0.83[EUR][1000 genomes]
rs4847217	0.83[EUR][1000 genomes]
rs4847285	0.83[EUR][1000 genomes]
rs4847304	0.83[EUR][1000 genomes]
rs4847309	0.83[EUR][1000 genomes]
rs4847310	0.83[EUR][1000 genomes]
rs4847363	0.83[EUR][1000 genomes]
rs4847370	0.87[EUR][1000 genomes]
rs6604010	0.83[EUR][1000 genomes]
rs6604012	0.83[EUR][1000 genomes]
rs6604015	0.83[EUR][1000 genomes]
rs6604018	0.83[EUR][1000 genomes]
rs6604022	0.83[EUR][1000 genomes]
rs6660296	0.83[EUR][1000 genomes]
rs6661600	0.83[EUR][1000 genomes]
rs6665579	0.83[EUR][1000 genomes]
rs6676454	0.83[EUR][1000 genomes]
rs6685705	0.83[EUR][1000 genomes]
rs6693371	0.87[EUR][1000 genomes]
rs7513815	0.83[EUR][1000 genomes]
rs7526582	0.81[EUR][1000 genomes]
rs7532731	0.90[EUR][1000 genomes]
rs7543327	0.83[EUR][1000 genomes]
rs7543964	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7549844	0.83[EUR][1000 genomes]
rs7551340	0.89[ASN][1000 genomes]
rs7551880	0.87[EUR][1000 genomes]
rs7552085	0.83[EUR][1000 genomes]
rs7554868	0.83[EUR][1000 genomes]
rs757469	0.83[EUR][1000 genomes]
rs9439924	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs976208	0.83[EUR][1000 genomes]
rs976209	0.83[EUR][1000 genomes]
rs980940	0.83[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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93400800-93421800	Weak transcription	Fetal Lung	lung
2	chr1:93409200-93421200	Weak transcription	Fetal Brain Female	brain
3	chr1:93409600-93426000	Weak transcription	Lung	lung
4	chr1:93410600-93425600	Weak transcription	Aorta	Aorta
5	chr1:93410600-93425800	Weak transcription	Right Atrium	heart
6	chr1:93410600-93426000	Weak transcription	Left Ventricle	heart
7	chr1:93411000-93422000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr1:93411000-93425800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr1:93412400-93422000	Weak transcription	Liver	Liver
10	chr1:93413600-93425600	Enhancers	Primary B cells from peripheral blood	blood
11	chr1:93415200-93425600	Enhancers	Primary T cells from cord blood	blood
12	chr1:93415200-93425600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:93415200-93425600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr1:93415200-93425600	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr1:93415600-93422800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:93416400-93422200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:93416400-93422600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:93417000-93425400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:93417000-93425600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:93417000-93425600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:93417000-93425800	Weak transcription	Right Ventricle	heart
22	chr1:93417200-93421800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr1:93417200-93421800	Weak transcription	Fetal Intestine Small	intestine
24	chr1:93417200-93422000	Weak transcription	Adipose Nuclei	Adipose
25	chr1:93417200-93422000	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:93417200-93422200	Weak transcription	Fetal Intestine Large	intestine
27	chr1:93417200-93423800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:93417200-93425800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr1:93417400-93421800	Weak transcription	Stomach Mucosa	stomach
30	chr1:93417400-93422200	Weak transcription	HSMMtube	muscle
31	chr1:93417400-93422400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:93417400-93423200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:93417600-93422000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:93417600-93422800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:93417600-93425600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:93417600-93425600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:93417800-93421600	Weak transcription	K562	blood
38	chr1:93417800-93421800	Weak transcription	Brain Angular Gyrus	brain
39	chr1:93417800-93422200	Weak transcription	Thymus	Thymus
40	chr1:93417800-93422600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:93417800-93423000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:93417800-93425600	Weak transcription	NHLF	lung
43	chr1:93418000-93425600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr1:93418200-93421200	Weak transcription	Fetal Thymus	thymus
45	chr1:93418200-93421800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:93418200-93425800	Weak transcription	Psoas Muscle	Psoas
47	chr1:93418600-93422000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:93418600-93422000	Weak transcription	A549	lung
49	chr1:93419000-93421800	Weak transcription	Small Intestine	intestine
50	chr1:93419200-93421800	Weak transcription	HepG2	liver

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