Variant report

Variant	rs59683609
Chromosome Location	chr4:6964910-6964911
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	chr4:6964388..6966131-chr4:6985503..6987290,2	K562	blood:
2	chr4:6964718..6967361-chr4:6987942..6990285,2	K562	blood:

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10000433	0.91[EUR][1000 genomes]
rs1048009	1.00[ASN][1000 genomes]
rs28384174	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28729690	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41410847	1.00[ASN][1000 genomes]
rs55659111	0.92[EUR][1000 genomes]
rs55672215	1.00[ASN][1000 genomes]
rs55740475	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55833486	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55913461	0.92[EUR][1000 genomes]
rs56031152	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56081162	1.00[ASN][1000 genomes]
rs56094305	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56178503	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56268690	0.87[EUR][1000 genomes]
rs56320732	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56350643	0.92[EUR][1000 genomes]
rs56400338	0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56903115	1.00[ASN][1000 genomes]
rs57454756	1.00[ASN][1000 genomes]
rs59742225	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59809420	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60048916	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66519732	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66573146	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611116	1.00[ASN][1000 genomes]
rs66645969	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66712119	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66734745	1.00[ASN][1000 genomes]
rs66808450	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66819208	1.00[ASN][1000 genomes]
rs66905212	1.00[ASN][1000 genomes]
rs66978412	1.00[AFR][1000 genomes]
rs67067921	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67245546	1.00[ASN][1000 genomes]
rs67252699	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67315413	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67321746	1.00[ASN][1000 genomes]
rs67405518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67702333	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67750430	1.00[ASN][1000 genomes]
rs67922134	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67998004	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs68111914	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6812391	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68169399	1.00[ASN][1000 genomes]
rs6836225	0.85[EUR][1000 genomes]
rs6838042	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838250	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841389	0.92[EUR][1000 genomes]
rs6851488	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6855531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088528	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088564	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73199995	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73202120	1.00[ASN][1000 genomes]
rs73202122	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668802	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675281	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686168	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686186	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942188	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9992596	0.88[EUR][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:110 , 50 per page) page: 1 2 3

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	chr4:6954400-6965800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr4:6955800-6976000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:6956000-6967000	Weak transcription	Psoas Muscle	Psoas
8	chr4:6956000-6976000	Weak transcription	Colon Smooth Muscle	Colon
9	chr4:6956200-6965000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:6956400-6969200	Weak transcription	K562	blood
11	chr4:6957600-6970400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr4:6957600-6973800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:6957600-6976000	Weak transcription	Fetal Lung	lung
14	chr4:6957800-6976000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr4:6958400-6975800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:6958800-6967400	Weak transcription	Thymus	Thymus
17	chr4:6958800-6969400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr4:6959200-6968800	Weak transcription	Primary T cells from cord blood	blood
19	chr4:6959400-6967200	Weak transcription	Ovary	ovary
20	chr4:6961400-6965200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:6962000-6965400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:6962200-6965400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:6962200-6965400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:6962200-6965400	Enhancers	Pancreas	Pancrea
25	chr4:6962200-6965600	Enhancers	Gastric	stomach
26	chr4:6962200-6969600	Weak transcription	Fetal Brain Female	brain
27	chr4:6962400-6966200	Enhancers	Fetal Muscle Trunk	muscle
28	chr4:6962400-6967800	Enhancers	Fetal Muscle Leg	muscle
29	chr4:6962400-6968800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:6962600-6965400	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr4:6962600-6965400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:6962600-6968200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:6962600-6968400	Enhancers	Liver	Liver
34	chr4:6963000-6965200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr4:6963000-6966600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:6963000-6967400	Genic enhancers	Fetal Intestine Small	intestine
37	chr4:6963000-6968600	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr4:6963200-6965400	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr4:6963200-6965400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr4:6963200-6965600	Enhancers	Primary B cells from cord blood	blood
41	chr4:6963200-6965800	Enhancers	Primary B cells from peripheral blood	blood
42	chr4:6963200-6967400	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr4:6963400-6965200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:6963400-6965400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr4:6963400-6965400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr4:6963400-6965600	Enhancers	Placenta	Placenta
47	chr4:6963600-6965400	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr4:6963600-6965400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr4:6963600-6966200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:6963600-6967600	Enhancers	HepG2	liver

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