Variant report

Variant	rs12973210
Chromosome Location	chr19:38916308-38916309
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:38891977..38893968-chr19:38915428..38917384,2	K562	blood:
2	chr19:38900054..38902941-chr19:38914751..38916566,2	K562	blood:
3	chr19:38904074..38906079-chr19:38915265..38916795,2	K562	blood:
4	chr19:38899068..38903250-chr19:38912527..38916566,4	K562	blood:

Variant related genes	Relation type
ENSG00000130244	Chromatin interaction
ENSG00000171777	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11883126	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12971920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12972609	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12972895	1.00[EUR][1000 genomes]
rs12974363	1.00[CEU][hapmap];0.87[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12974979	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12975212	0.96[EUR][1000 genomes]
rs12982894	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12986359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17640544	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34026587	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34158728	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34377632	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34411591	0.94[AFR][1000 genomes]
rs34456672	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34898849	0.94[AFR][1000 genomes]
rs35136248	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71356804	1.00[EUR][1000 genomes]
rs71356805	1.00[EUR][1000 genomes]
rs9916978	1.00[CEU][hapmap];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases
2	nsv833822	chr19:38760748-38945105	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv911658	chr19:38785318-39002140	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
4	nsv470140	chr19:38840139-39119494	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS 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	43 gene(s)	inside rSNPs	diseases
5	nsv911659	chr19:38852357-39002140	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv911660	chr19:38852357-39060238	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Strong transcription Weak transcription 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	41 gene(s)	inside rSNPs	diseases
7	nsv833823	chr19:38855550-39035800	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1055309	chr19:38896244-38945851	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv911663	chr19:38899548-39101879	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
10	nsv1065803	chr19:38903099-38945851	Bivalent Enhancer Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv1066138	chr19:38904072-38949729	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv833824	chr19:38914618-39084758	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38909600-38916400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:38913400-38916600	Weak transcription	GM12878-XiMat	blood
3	chr19:38914600-38916400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr19:38915000-38916600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
5	chr19:38915000-38916600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr19:38915800-38916800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
7	chr19:38915800-38916800	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr19:38915800-38917000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
9	chr19:38915800-38917200	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr19:38916000-38916400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr19:38916000-38916400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr19:38916000-38916400	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr19:38916000-38916400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:38916000-38916400	Enhancers	Fetal Thymus	thymus
15	chr19:38916000-38916800	Active TSS	Brain Hippocampus Middle	brain
16	chr19:38916000-38916800	Bivalent/Poised TSS	Colonic Mucosa	Colon
17	chr19:38916000-38916800	Active TSS	Duodenum Mucosa	Duodenum
18	chr19:38916000-38916800	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
19	chr19:38916000-38917200	Enhancers	Primary T cells from cord blood	blood
20	chr19:38916000-38917200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:38916000-38917400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr19:38916000-38917400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:38916000-38917600	Enhancers	H1 Cell Line	embryonic stem cell
24	chr19:38916000-38917600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:38916000-38918000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:38916200-38916400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr19:38916200-38916400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr19:38916200-38916400	Active TSS	Placenta	Placenta
29	chr19:38916200-38916400	Flanking Active TSS	Lung	lung
30	chr19:38916200-38916600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr19:38916200-38916600	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr19:38916200-38916600	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr19:38916200-38916600	Active TSS	Rectal Smooth Muscle	rectum
34	chr19:38916200-38916800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr19:38916200-38916800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:38916200-38916800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr19:38916200-38916800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:38916200-38916800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
39	chr19:38916200-38916800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
40	chr19:38916200-38916800	Active TSS	Gastric	stomach
41	chr19:38916200-38916800	Bivalent/Poised TSS	Left Ventricle	heart
42	chr19:38916200-38916800	Bivalent/Poised TSS	Right Atrium	heart
43	chr19:38916200-38916800	Bivalent/Poised TSS	Right Ventricle	heart
44	chr19:38916200-38916800	Flanking Active TSS	K562	blood
45	chr19:38916200-38917200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr19:38916200-38917200	Enhancers	Dnd41	blood
47	chr19:38916200-38917400	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr19:38916200-38917600	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr19:38916200-38918400	Enhancers	Primary B cells from peripheral blood	blood
50	chr19:38916200-38918400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

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