Variant report

Variant	rs73032484
Chromosome Location	chr19:37017158-37017159
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	chr19:37016297..37018434-chr19:37262581..37265198,2	K562	blood:

Variant related genes	Relation type
ENSG00000267260	Chromatin interaction
ENSG00000267041	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs17707014	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17707021	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17707033	0.87[ASN][1000 genomes]
rs2891868	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4514798	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4806328	0.90[AMR][1000 genomes]
rs4806333	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4806340	0.81[AMR][1000 genomes]
rs55634974	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55743839	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55801623	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55830504	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55880628	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55933007	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56054915	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs56075402	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56183102	0.87[AMR][1000 genomes]
rs56246998	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs57126710	0.87[ASN][1000 genomes]
rs6510549	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7249099	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7257899	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7259057	0.87[AMR][1000 genomes]
rs73032465	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73032489	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73032491	0.87[ASN][1000 genomes]
rs73032502	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034106	0.87[ASN][1000 genomes]
rs73034109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034142	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73034176	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73036297	0.81[AMR][1000 genomes]
rs73038105	0.81[AMR][1000 genomes]
rs73049817	0.90[AMR][1000 genomes]
rs73049826	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs73049844	0.81[AMR][1000 genomes]
rs73049851	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73049853	0.85[AMR][1000 genomes]
rs8100340	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8102097	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8102474	0.87[ASN][1000 genomes]
rs8103917	0.85[AMR][1000 genomes]
rs8104893	0.90[AMR][1000 genomes]
rs8106144	0.87[ASN][1000 genomes]
rs8110140	0.87[AMR][1000 genomes]
rs8111192	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv911648	chr19:36914171-37047472	Weak transcription Active TSS Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
7	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 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	chr19:36999200-37018000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr19:36999800-37017400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr19:37000000-37017800	ZNF genes & repeats	Liver	Liver
4	chr19:37001000-37018000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr19:37001400-37017200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr19:37001600-37018200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:37002600-37018000	ZNF genes & repeats	Fetal Brain Female	brain
8	chr19:37003200-37018000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr19:37003400-37017200	ZNF genes & repeats	Dnd41	blood
10	chr19:37003400-37017400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
11	chr19:37003800-37018200	ZNF genes & repeats	Brain Germinal Matrix	brain
12	chr19:37003800-37018600	ZNF genes & repeats	A549	lung
13	chr19:37004600-37017400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr19:37008600-37017800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr19:37008600-37017800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:37009000-37018400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:37009200-37017800	Weak transcription	Right Ventricle	heart
18	chr19:37009400-37018400	Weak transcription	Stomach Mucosa	stomach
19	chr19:37010000-37017600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr19:37010400-37017400	Weak transcription	Fetal Heart	heart
21	chr19:37011200-37017600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr19:37011400-37018200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:37011600-37017200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
24	chr19:37012000-37018400	Weak transcription	Gastric	stomach
25	chr19:37012400-37017600	Weak transcription	Hela-S3	cervix
26	chr19:37013400-37018400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:37013600-37018000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
28	chr19:37013800-37017400	Weak transcription	HepG2	liver
29	chr19:37014200-37017800	Weak transcription	Brain Anterior Caudate	brain
30	chr19:37014200-37017800	Weak transcription	Pancreas	Pancrea
31	chr19:37014400-37017800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:37014400-37017800	Weak transcription	Brain Angular Gyrus	brain
33	chr19:37014400-37017800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:37014400-37017800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr19:37014400-37017800	Weak transcription	HSMMtube	muscle
36	chr19:37014400-37017800	Weak transcription	NHLF	lung
37	chr19:37015200-37018000	ZNF genes & repeats	Fetal Intestine Small	intestine
38	chr19:37015400-37018200	ZNF genes & repeats	GM12878-XiMat	blood
39	chr19:37015600-37017400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr19:37015600-37017600	ZNF genes & repeats	Fetal Brain Male	brain
41	chr19:37015600-37018000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr19:37015800-37017200	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
43	chr19:37016000-37017600	Weak transcription	Brain Substantia Nigra	brain
44	chr19:37016200-37017600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr19:37016200-37017600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:37016200-37017600	Weak transcription	Rectal Smooth Muscle	rectum
47	chr19:37016200-37017800	Weak transcription	HMEC	breast
48	chr19:37016200-37017800	Weak transcription	NHDF-Ad	bronchial
49	chr19:37016200-37018400	Weak transcription	Placenta	Placenta
50	chr19:37016200-37018400	Weak transcription	Psoas Muscle	Psoas

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