Variant report

Variant	rs73831243
Chromosome Location	chr3:43339790-43339791
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:43339445-43340689	HUVEC	blood vessel:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:43327230..43329877-chr3:43337733..43340276,2	K562	blood:
2	chr3:43329569..43331859-chr3:43336954..43339880,3	MCF-7	breast:
3	chr3:43338696..43340515-chr3:43344515..43347425,2	K562	blood:
4	chr3:43338773..43340383-chr3:43342318..43344854,2	K562	blood:
5	chr3:43327770..43329938-chr3:43337733..43342180,4	K562	blood:
6	chr3:43289737..43291817-chr3:43339501..43341574,2	K562	blood:

No data

Variant related genes	Relation type
SNRK	TF binding region
ENSG00000163788	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:141)

rs_ID	r²[population]
rs17075422	1.00[AMR][1000 genomes]
rs17075424	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075519	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075525	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075540	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075555	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075561	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075564	0.97[AFR][1000 genomes]
rs17075568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075581	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075614	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075617	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075623	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075624	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17075696	0.85[AFR][1000 genomes]
rs17075709	0.90[AFR][1000 genomes]
rs17075750	0.85[AFR][1000 genomes]
rs17075759	0.85[AFR][1000 genomes]
rs17075762	0.85[AFR][1000 genomes]
rs17254716	1.00[AMR][1000 genomes]
rs17320381	1.00[AMR][1000 genomes]
rs17405728	1.00[AMR][1000 genomes]
rs17406148	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17406718	0.97[AFR][1000 genomes]
rs17472888	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2036617	1.00[AFR][1000 genomes]
rs2086652	0.90[AFR][1000 genomes]
rs34343482	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34730190	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41321344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4368477	0.90[AFR][1000 genomes]
rs55694436	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55727302	1.00[AMR][1000 genomes]
rs55730605	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55760455	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55765643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55786717	0.85[AFR][1000 genomes]
rs55804512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55837468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55864645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55887904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55908419	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55915337	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55919732	0.85[AFR][1000 genomes]
rs55951861	1.00[AMR][1000 genomes]
rs55957435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56100043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56209592	0.90[AFR][1000 genomes]
rs56225070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56282728	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56285372	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56286131	1.00[AMR][1000 genomes]
rs56388016	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56395291	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56659864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56741341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56849726	0.90[AFR][1000 genomes]
rs57019763	1.00[AMR][1000 genomes]
rs57020473	1.00[AMR][1000 genomes]
rs57147822	0.85[AFR][1000 genomes]
rs57376786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58066802	0.90[AFR][1000 genomes]
rs58158782	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58209397	1.00[AMR][1000 genomes]
rs58216554	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58508138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58636339	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58694029	0.85[AFR][1000 genomes]
rs58866653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59113361	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59121457	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59276993	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59433561	0.90[AFR][1000 genomes]
rs59495244	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59545985	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59706458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59872395	1.00[AMR][1000 genomes]
rs59930267	1.00[AMR][1000 genomes]
rs60689590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61270592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61375879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61644103	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73829182	1.00[AMR][1000 genomes]
rs73829183	1.00[AMR][1000 genomes]
rs73829189	1.00[AMR][1000 genomes]
rs73829191	1.00[AMR][1000 genomes]
rs73831214	1.00[AMR][1000 genomes]
rs73831218	1.00[AMR][1000 genomes]
rs73831224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831226	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831227	1.00[AMR][1000 genomes]
rs73831230	0.94[AFR][1000 genomes]
rs73831232	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831233	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831236	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831238	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831239	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831242	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831245	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831247	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831256	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831267	1.00[AFR][1000 genomes]
rs73831271	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831273	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831274	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831275	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831277	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831279	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831280	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831281	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831285	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831287	0.87[AFR][1000 genomes]
rs73831288	0.90[AFR][1000 genomes]
rs73831291	0.90[AFR][1000 genomes]
rs73831292	0.90[AFR][1000 genomes]
rs73831294	0.90[AFR][1000 genomes]
rs73831295	0.90[AFR][1000 genomes]
rs73831296	0.90[AFR][1000 genomes]
rs73831297	0.90[AFR][1000 genomes]
rs73831301	0.90[AFR][1000 genomes]
rs73832606	0.90[AFR][1000 genomes]
rs73832607	0.85[AFR][1000 genomes]
rs984347	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752008	chr3:43285369-43360879	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1009102	chr3:43285369-43369712	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv876732	chr3:43326887-43360879	Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43329200-43344800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:43329200-43346800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr3:43329400-43346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:43329600-43345000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:43330400-43344800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr3:43330800-43344600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:43330800-43359000	Weak transcription	Fetal Brain Male	brain
8	chr3:43331000-43340600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:43331000-43344600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr3:43331200-43344600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:43331400-43344600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr3:43331400-43344600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr3:43331400-43358200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:43331600-43344600	Weak transcription	Placenta	Placenta
15	chr3:43331600-43344600	Weak transcription	Hela-S3	cervix
16	chr3:43331600-43344800	Weak transcription	Brain Germinal Matrix	brain
17	chr3:43332400-43361600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr3:43332800-43377000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:43333000-43344600	Weak transcription	Fetal Brain Female	brain
20	chr3:43333000-43344600	Weak transcription	NH-A	brain
21	chr3:43333200-43344800	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr3:43333400-43339800	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:43334400-43340600	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr3:43334800-43342200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr3:43335000-43344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:43335400-43339800	Weak transcription	Esophagus	oesophagus
27	chr3:43335400-43344600	Weak transcription	Ovary	ovary
28	chr3:43335400-43351000	Weak transcription	Fetal Stomach	stomach
29	chr3:43336800-43344600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr3:43337000-43339800	Weak transcription	Spleen	Spleen
31	chr3:43337000-43344600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr3:43337000-43344800	Weak transcription	Fetal Kidney	kidney
33	chr3:43337000-43354400	Weak transcription	A549	lung
34	chr3:43337400-43340600	Enhancers	Adipose Nuclei	Adipose
35	chr3:43337400-43358200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr3:43337600-43339800	Flanking Active TSS	Primary B cells from cord blood	blood
37	chr3:43337600-43339800	Weak transcription	Lung	lung
38	chr3:43338000-43339800	Enhancers	Fetal Heart	heart
39	chr3:43338000-43341200	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr3:43338200-43339800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr3:43338200-43340000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr3:43338200-43342400	Weak transcription	Fetal Intestine Small	intestine
43	chr3:43338400-43339800	Weak transcription	Aorta	Aorta
44	chr3:43338400-43339800	Weak transcription	Fetal Muscle Leg	muscle
45	chr3:43338400-43339800	Weak transcription	Left Ventricle	heart
46	chr3:43338400-43342600	Genic enhancers	HUVEC	blood vessel
47	chr3:43338400-43344600	Weak transcription	Fetal Lung	lung
48	chr3:43338400-43344600	Weak transcription	NHDF-Ad	bronchial
49	chr3:43338600-43339800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:43338600-43339800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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