Variant report

Variant	rs10514388
Chromosome Location	chr16:74934182-74934183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:74932310..74934611-chr16:74937064..74939268,2	K562	blood:
2	chr16:74932310..74934611-chr16:74935947..74939268,3	K562	blood:

Variant related genes	Relation type
ENSG00000103091	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10514387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514389	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs11149776	0.93[ASN][1000 genomes]
rs11149777	0.93[ASN][1000 genomes]
rs16949666	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16949679	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7342703	1.00[JPT][hapmap]
rs7342788	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342799	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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	123 gene(s)	inside rSNPs	diseases
3	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
4	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
7	nsv431516	chr16:74840166-75099566	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
9	nsv833280	chr16:74855811-75077227	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1059764	chr16:74868327-74989488	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv1064546	chr16:74868795-74989488	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
12	nsv572977	chr16:74873513-74954897	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv526213	chr16:74873513-74990061	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv572978	chr16:74873574-74990004	Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv1063842	chr16:74896749-74990601	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv542959	chr16:74896749-74990601	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Flanking Active TSS 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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74904800-74944200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr16:74905200-74938000	Strong transcription	HepG2	liver
3	chr16:74905400-74938200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr16:74905400-74950800	Strong transcription	Liver	Liver
5	chr16:74905600-74938800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr16:74906200-74993200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr16:74907200-74938200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr16:74911600-74938200	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr16:74912600-74936000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr16:74912800-74934600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr16:74913400-74946000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:74914400-74938600	Strong transcription	Adipose Nuclei	Adipose
13	chr16:74917000-74938000	Strong transcription	Primary T cells from cord blood	blood
14	chr16:74921800-74938000	Strong transcription	Fetal Thymus	thymus
15	chr16:74923200-74938800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:74925600-74939800	Weak transcription	HUVEC	blood vessel
17	chr16:74925600-74947400	Weak transcription	Stomach Mucosa	stomach
18	chr16:74926200-74936600	Strong transcription	Fetal Muscle Leg	muscle
19	chr16:74927200-74941000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr16:74927200-74941400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr16:74927400-74937600	Weak transcription	Right Ventricle	heart
22	chr16:74927400-74940200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr16:74927400-74940600	Weak transcription	Pancreas	Pancrea
24	chr16:74927400-74946000	Weak transcription	Psoas Muscle	Psoas
25	chr16:74927600-74940600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr16:74927600-74945600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr16:74927800-74936200	Weak transcription	Brain Substantia Nigra	brain
28	chr16:74927800-74940600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:74927800-74942600	Weak transcription	Gastric	stomach
30	chr16:74927800-74946000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr16:74928000-74941600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr16:74929000-74938200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr16:74929200-74936600	Strong transcription	Fetal Stomach	stomach
34	chr16:74929400-74936600	Enhancers	Fetal Heart	heart
35	chr16:74929400-74938000	Strong transcription	Fetal Muscle Trunk	muscle
36	chr16:74929400-74940400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:74929600-74934200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr16:74929600-74934400	Strong transcription	Dnd41	blood
39	chr16:74929600-74935200	Strong transcription	Thymus	Thymus
40	chr16:74929800-74940600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr16:74930200-74935600	Strong transcription	Fetal Intestine Small	intestine
42	chr16:74930400-74938600	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr16:74930600-74934200	Strong transcription	Stomach Smooth Muscle	stomach
44	chr16:74930600-74934800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr16:74930600-74937600	Strong transcription	Primary B cells from peripheral blood	blood
46	chr16:74930600-74938200	Strong transcription	Ovary	ovary
47	chr16:74930800-74934600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr16:74930800-74940400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr16:74931000-74934600	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr16:74931000-74938800	Strong transcription	Rectal Mucosa Donor 29	rectum

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