Variant report

Variant	rs9994021
Chromosome Location	chr4:6958756-6958757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:6957151..6958977-chr4:6961301..6963114,2	K562	blood:
2	chr4:6956864..6959519-chr4:7054883..7056479,2	K562	blood:
3	chr4:6956864..6959792-chr4:7054490..7056479,3	K562	blood:
4	chr4:6956929..6959439-chr4:6986571..6988935,2	K562	blood:
5	chr4:6954554..6957687-chr4:6958182..6961347,5	K562	blood:
6	chr4:6908883..6912080-chr4:6957708..6959915,3	MCF-7	breast:
7	chr4:6942348..6944791-chr4:6958193..6960563,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173011	Chromatin interaction
ENSG00000265953	Chromatin interaction
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10007838	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10020561	1.00[AMR][1000 genomes]
rs10025944	1.00[AMR][1000 genomes]
rs10026013	1.00[AMR][1000 genomes]
rs13435398	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13435488	1.00[AMR][1000 genomes]
rs28412715	1.00[AMR][1000 genomes]
rs28461523	1.00[AMR][1000 genomes]
rs28463590	1.00[AMR][1000 genomes]
rs28546580	1.00[AMR][1000 genomes]
rs28620599	1.00[AMR][1000 genomes]
rs28629411	1.00[AMR][1000 genomes]
rs28631659	1.00[AMR][1000 genomes]
rs28757648	1.00[AMR][1000 genomes]
rs73086431	1.00[AMR][1000 genomes]
rs73088550	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7666710	1.00[AMR][1000 genomes]
rs9291119	1.00[AMR][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	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6928000-6969600	Weak transcription	Aorta	Aorta
2	chr4:6945000-6970200	Weak transcription	Hela-S3	cervix
3	chr4:6945800-6965800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:6946600-6969000	Weak transcription	Dnd41	blood
5	chr4:6948600-6962400	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr4:6950400-6963800	Weak transcription	Small Intestine	intestine
7	chr4:6953600-6960600	Enhancers	Fetal Thymus	thymus
8	chr4:6953800-6960000	Enhancers	Placenta	Placenta
9	chr4:6954000-6964000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr4:6954200-6958800	Weak transcription	Primary T cells from cord blood	blood
11	chr4:6954400-6965800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:6954800-6962800	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr4:6955000-6962600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:6955400-6959000	Genic enhancers	Fetal Intestine Small	intestine
15	chr4:6955400-6959200	Enhancers	HepG2	liver
16	chr4:6955400-6960000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:6955600-6958800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:6955600-6961800	Enhancers	Pancreas	Pancrea
19	chr4:6955800-6976000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr4:6956000-6961400	Weak transcription	Fetal Brain Female	brain
21	chr4:6956000-6962000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr4:6956000-6964600	Weak transcription	Right Atrium	heart
23	chr4:6956000-6967000	Weak transcription	Psoas Muscle	Psoas
24	chr4:6956000-6976000	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:6956200-6958800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr4:6956200-6958800	Weak transcription	Ovary	ovary
27	chr4:6956200-6959000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:6956200-6961000	Weak transcription	Left Ventricle	heart
29	chr4:6956200-6961400	Weak transcription	Brain Substantia Nigra	brain
30	chr4:6956200-6962200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:6956200-6962600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:6956200-6962600	Weak transcription	Fetal Stomach	stomach
33	chr4:6956200-6963000	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:6956200-6963800	Weak transcription	Duodenum Mucosa	Duodenum
35	chr4:6956200-6964000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr4:6956200-6964400	Weak transcription	Adipose Nuclei	Adipose
37	chr4:6956200-6964400	Weak transcription	Colonic Mucosa	Colon
38	chr4:6956200-6964600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr4:6956200-6964600	Weak transcription	NHLF	lung
40	chr4:6956200-6965000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr4:6956400-6962600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr4:6956400-6969200	Weak transcription	K562	blood
43	chr4:6956800-6958800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr4:6956800-6961000	Weak transcription	Fetal Brain Male	brain
45	chr4:6957200-6959400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr4:6957400-6961000	Weak transcription	Brain Angular Gyrus	brain
47	chr4:6957400-6962600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr4:6957400-6962600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr4:6957400-6963200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr4:6957400-6963800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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