Variant report

Variant	rs72985424
Chromosome Location	chr3:135801157-135801158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:135799021..135801256-chr3:135806367..135808131,2	K562	blood:
2	chr3:135800218..135802096-chr3:136469861..136471410,2	K562	blood:
3	chr3:135800963..135802947-chr3:135914526..135916978,2	MCF-7	breast:
4	chr3:135793213..135794869-chr3:135799628..135802469,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273455	Chromatin interaction
ENSG00000174579	Chromatin interaction
ENSG00000118007	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72985429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72985473	0.89[AFR][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	nsv869409	chr3:135649101-136164174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv4023	chr3:135772198-135816635	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:135755200-135801400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr3:135761000-135802400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr3:135765000-135801800	Weak transcription	Esophagus	oesophagus
4	chr3:135771200-135802000	Weak transcription	Brain Germinal Matrix	brain
5	chr3:135771200-135809600	Weak transcription	Gastric	stomach
6	chr3:135774400-135802000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:135775000-135809600	Weak transcription	Fetal Brain Male	brain
8	chr3:135775000-135809600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr3:135781400-135801600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr3:135781400-135802000	Weak transcription	Fetal Intestine Small	intestine
11	chr3:135781400-135803000	Weak transcription	Right Ventricle	heart
12	chr3:135784200-135805600	Weak transcription	Stomach Mucosa	stomach
13	chr3:135785600-135801800	Weak transcription	Pancreas	Pancrea
14	chr3:135790200-135801800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:135790200-135801800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr3:135790200-135801800	Weak transcription	Ovary	ovary
17	chr3:135790200-135802800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:135790200-135830800	Weak transcription	Psoas Muscle	Psoas
19	chr3:135790600-135801400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:135790600-135809600	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:135790800-135801600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr3:135790800-135801800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr3:135790800-135801800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:135790800-135801800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:135790800-135801800	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:135790800-135802000	Weak transcription	Fetal Kidney	kidney
27	chr3:135790800-135802200	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr3:135790800-135802600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:135790800-135803000	Weak transcription	NHEK	skin
30	chr3:135790800-135807000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr3:135790800-135809400	Weak transcription	Adipose Nuclei	Adipose
32	chr3:135790800-135809600	Weak transcription	Aorta	Aorta
33	chr3:135790800-135809600	Weak transcription	Brain Angular Gyrus	brain
34	chr3:135790800-135809600	Weak transcription	Brain Anterior Caudate	brain
35	chr3:135790800-135809600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr3:135790800-135809600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr3:135791000-135801800	Weak transcription	Brain Hippocampus Middle	brain
38	chr3:135791000-135801800	Weak transcription	Fetal Stomach	stomach
39	chr3:135791200-135802800	Weak transcription	HMEC	breast
40	chr3:135791400-135801800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:135794400-135806600	Weak transcription	Fetal Heart	heart
42	chr3:135794400-135809600	Weak transcription	NH-A	brain
43	chr3:135795000-135802400	Weak transcription	Fetal Lung	lung
44	chr3:135795000-135803000	Weak transcription	NHLF	lung
45	chr3:135795200-135802800	Weak transcription	HSMMtube	muscle
46	chr3:135796000-135802800	Weak transcription	Lung	lung
47	chr3:135796600-135802800	Weak transcription	Fetal Brain Female	brain
48	chr3:135797600-135801800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr3:135797800-135801800	Weak transcription	Colonic Mucosa	Colon
50	chr3:135798000-135802000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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