Variant report

Variant	rs9997393
Chromosome Location	chr4:8397576-8397577
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	chr4:8383597..8386239-chr4:8397040..8399494,2	K562	blood:
2	chr4:8247640..8250580-chr4:8396679..8398196,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10009196	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10011431	1.00[AMR][1000 genomes]
rs10019143	1.00[AMR][1000 genomes]
rs10022276	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13434523	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28416714	1.00[AMR][1000 genomes]
rs28527486	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28591490	1.00[AMR][1000 genomes]
rs28609497	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28621881	1.00[AMR][1000 genomes]
rs28626958	0.94[AFR][1000 genomes]
rs28647609	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28707116	1.00[AMR][1000 genomes]
rs28839770	1.00[AMR][1000 genomes]
rs28860567	1.00[AMR][1000 genomes]
rs28877981	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7695149	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9884532	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9985915	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9985917	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9986108	1.00[AMR][1000 genomes]
rs9992927	1.00[AMR][1000 genomes]
rs9997800	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv878609	chr4:8373832-8407406	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv878610	chr4:8377058-8416976	ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	esv1005399	chr4:8387281-8397983	Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	nsv470014	chr4:8390646-8429817	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	nsv593639	chr4:8394376-8424108	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8366400-8411600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr4:8373400-8401600	Strong transcription	Fetal Intestine Small	intestine
3	chr4:8375000-8401600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:8378600-8398600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:8378600-8398800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr4:8378800-8397800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr4:8381800-8398600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:8382400-8401600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:8383800-8419000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:8384000-8399600	Strong transcription	Spleen	Spleen
11	chr4:8384800-8401600	Strong transcription	Thymus	Thymus
12	chr4:8384800-8418600	Strong transcription	Primary T cells from cord blood	blood
13	chr4:8385200-8411600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:8385600-8407000	Weak transcription	Stomach Mucosa	stomach
15	chr4:8386400-8398200	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr4:8386400-8408400	Strong transcription	Fetal Intestine Large	intestine
17	chr4:8386600-8398600	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr4:8386600-8399400	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr4:8386600-8400600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr4:8387400-8399600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr4:8387400-8412000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr4:8388400-8399200	Strong transcription	Liver	Liver
23	chr4:8389000-8399600	Strong transcription	Pancreas	Pancrea
24	chr4:8389400-8399200	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr4:8389400-8399200	Genic enhancers	Fetal Muscle Leg	muscle
26	chr4:8389800-8411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:8391200-8406400	Weak transcription	Fetal Thymus	thymus
28	chr4:8391400-8397600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:8391600-8397600	Weak transcription	Colonic Mucosa	Colon
30	chr4:8392400-8397600	Genic enhancers	Placenta	Placenta
31	chr4:8393000-8397800	Genic enhancers	Fetal Stomach	stomach
32	chr4:8393600-8397600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:8393600-8401600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr4:8393600-8401800	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr4:8393800-8397600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:8393800-8401400	Strong transcription	Gastric	stomach
37	chr4:8394000-8401600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:8394200-8398800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr4:8394200-8407400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:8394600-8400000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr4:8394800-8403200	Weak transcription	Psoas Muscle	Psoas
42	chr4:8394800-8409400	Weak transcription	Small Intestine	intestine
43	chr4:8395200-8397600	Enhancers	Fetal Heart	heart
44	chr4:8395400-8398200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr4:8395400-8398400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr4:8395400-8399600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:8395600-8397600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr4:8395600-8397800	Strong transcription	Primary B cells from peripheral blood	blood
49	chr4:8395600-8398200	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr4:8395800-8398000	Enhancers	Brain Angular Gyrus	brain

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