Variant report

Variant	rs71337534
Chromosome Location	chr19:37158665-37158666
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37129696..37132146-chr19:37158432..37159959,2	K562	blood:
2	chr19:37158057..37159719-chr19:37162849..37165565,2	MCF-7	breast:
3	chr19:37157483..37161085-chr19:37175435..37180024,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197808	Chromatin interaction
ENSG00000189042	Chromatin interaction
ENSG00000225975	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10411411	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1053064	0.91[EUR][1000 genomes]
rs12162275	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12973307	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2912401	0.81[EUR][1000 genomes]
rs2912402	0.81[EUR][1000 genomes]
rs2912406	0.83[EUR][1000 genomes]
rs2912416	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2912417	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2967424	0.82[EUR][1000 genomes]
rs2967455	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2967470	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3096621	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108169	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3108170	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3108175	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3108180	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3108198	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108199	0.86[EUR][1000 genomes]
rs3108200	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108207	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108213	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108547	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3108548	0.81[EUR][1000 genomes]
rs3108551	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3108553	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3108554	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108558	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3108561	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108571	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108578	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108581	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3108595	0.83[EUR][1000 genomes]
rs3108599	0.81[EUR][1000 genomes]
rs3108601	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3108611	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3111543	0.83[EUR][1000 genomes]
rs3111545	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3111546	0.82[EUR][1000 genomes]
rs7254978	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8112546	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription 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	73 gene(s)	inside rSNPs	diseases
7	esv3492171	chr19:37122012-37190210	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
8	esv3492172	chr19:37122562-37190060	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
9	esv3492173	chr19:37122562-37190060	Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a
10	nsv469794	chr19:37129858-37310257	Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
11	nsv482392	chr19:37129858-37310257	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	esv3420176	chr19:37130161-37207917	ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	n/a
13	nsv1061250	chr19:37134068-37188771	ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a
14	esv34384	chr19:37134068-37330613	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
15	nsv817833	chr19:37146694-37357289	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37156600-37159400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr19:37156600-37159400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:37156600-37159600	Active TSS	Rectal Smooth Muscle	rectum
4	chr19:37156600-37160200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:37156800-37158800	Active TSS	Fetal Intestine Large	intestine
6	chr19:37156800-37159000	Active TSS	Fetal Intestine Small	intestine
7	chr19:37156800-37159200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr19:37156800-37159200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:37156800-37159600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr19:37157000-37158800	Active TSS	Pancreas	Pancrea
11	chr19:37157000-37158800	Active TSS	Right Atrium	heart
12	chr19:37157000-37159000	Active TSS	H1 Cell Line	embryonic stem cell
13	chr19:37157000-37159000	Active TSS	Primary T cells from cord blood	blood
14	chr19:37157000-37159000	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr19:37157000-37159000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:37157000-37159000	Active TSS	A549	lung
17	chr19:37157000-37159400	Active TSS	HSMMtube	muscle
18	chr19:37157000-37159600	Active TSS	Colonic Mucosa	Colon
19	chr19:37157200-37158800	Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr19:37157200-37158800	Active TSS	Dnd41	blood
21	chr19:37157200-37159000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:37157200-37159000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:37157200-37159000	Active TSS	Aorta	Aorta
24	chr19:37157200-37159000	Active TSS	Brain Anterior Caudate	brain
25	chr19:37157200-37159200	Active TSS	Right Ventricle	heart
26	chr19:37157400-37158800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:37157400-37158800	Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr19:37157400-37158800	Active TSS	Placenta	Placenta
29	chr19:37157400-37159200	Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr19:37157400-37159400	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr19:37157400-37159800	ZNF genes & repeats	Fetal Brain Male	brain
32	chr19:37157600-37158800	Active TSS	Stomach Smooth Muscle	stomach
33	chr19:37157600-37158800	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr19:37157600-37159000	Active TSS	Primary hematopoietic stem cells	blood
35	chr19:37157600-37159000	Active TSS	Duodenum Mucosa	Duodenum
36	chr19:37157600-37159200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr19:37157600-37159200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr19:37158000-37159000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr19:37158200-37158800	Weak transcription	Fetal Heart	heart
40	chr19:37158400-37158800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:37158400-37158800	Weak transcription	Brain Hippocampus Middle	brain
42	chr19:37158400-37158800	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr19:37158400-37159000	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr19:37158400-37159000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr19:37158400-37159000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr19:37158400-37159000	Weak transcription	Brain Substantia Nigra	brain
47	chr19:37158400-37159000	Weak transcription	GM12878-XiMat	blood
48	chr19:37158400-37159200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:37158400-37159200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr19:37158400-37159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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