Variant report

Variant	rs60268250
Chromosome Location	chr19:36375296-36375297
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:36248354..36250549-chr19:36374754..36376506,2	K562	blood:
2	chr19:36373464..36375910-chr19:36388053..36389740,2	K562	blood:

Variant related genes	Relation type
ENSG00000167604	Chromatin interaction
ENSG00000004776	Chromatin interaction
ENSG00000167595	Chromatin interaction

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs1057265	0.81[EUR][1000 genomes]
rs11084834	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11878444	0.81[EUR][1000 genomes]
rs11880785	0.85[ASN][1000 genomes]
rs11880909	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11881358	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11881364	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11881451	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11882386	0.81[EUR][1000 genomes]
rs16970735	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970737	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16970742	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970744	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172985	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17549166	0.83[ASN][1000 genomes]
rs2227909	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2228998	0.91[ASN][1000 genomes]
rs2242590	0.81[EUR][1000 genomes]
rs230260	1.00[EUR][1000 genomes]
rs230261	0.95[EUR][1000 genomes]
rs230262	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230263	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230264	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230265	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230266	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230267	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230268	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs230269	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2871778	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34006827	0.95[EUR][1000 genomes]
rs35423326	0.95[EUR][1000 genomes]
rs376240	0.95[EUR][1000 genomes]
rs392702	0.81[EUR][1000 genomes]
rs393116	0.95[EUR][1000 genomes]
rs401824	0.89[EUR][1000 genomes]
rs404299	0.95[EUR][1000 genomes]
rs412175	0.82[EUR][1000 genomes]
rs417786	0.81[EUR][1000 genomes]
rs443186	0.95[EUR][1000 genomes]
rs447783	0.81[EUR][1000 genomes]
rs4806227	0.87[ASN][1000 genomes]
rs55797913	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55816190	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56264349	0.86[EUR][1000 genomes]
rs56922307	0.81[EUR][1000 genomes]
rs57002105	0.81[ASN][1000 genomes]
rs57053076	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57068163	0.81[EUR][1000 genomes]
rs57094555	0.81[EUR][1000 genomes]
rs57113091	0.87[ASN][1000 genomes]
rs57516855	0.84[EUR][1000 genomes]
rs57668132	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57911093	0.91[ASN][1000 genomes]
rs58098901	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58109577	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58161969	0.81[EUR][1000 genomes]
rs58291714	1.00[EUR][1000 genomes]
rs58504183	0.85[EUR][1000 genomes]
rs58551711	0.85[EUR][1000 genomes]
rs59123406	0.98[AFR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59399698	0.84[EUR][1000 genomes]
rs59534183	0.84[EUR][1000 genomes]
rs59658571	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60073802	0.81[EUR][1000 genomes]
rs60576074	0.89[EUR][1000 genomes]
rs60869994	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60935148	0.85[EUR][1000 genomes]
rs61623584	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61660311	0.81[EUR][1000 genomes]
rs619833	0.95[EUR][1000 genomes]
rs7251744	0.95[EUR][1000 genomes]
rs7253086	0.85[EUR][1000 genomes]
rs7256433	0.85[EUR][1000 genomes]
rs7258909	0.95[EUR][1000 genomes]
rs73599539	0.81[EUR][1000 genomes]
rs73599540	0.81[EUR][1000 genomes]
rs73599546	0.81[EUR][1000 genomes]
rs73599565	0.81[EUR][1000 genomes]
rs73599577	0.81[EUR][1000 genomes]
rs73599600	0.85[EUR][1000 genomes]
rs73599602	0.81[EUR][1000 genomes]
rs73928331	0.85[EUR][1000 genomes]
rs73928332	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73928333	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs807660	0.95[EUR][1000 genomes]
rs8106732	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8110868	0.81[EUR][1000 genomes]
rs8110926	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8111209	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8111348	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs879407	0.95[EUR][1000 genomes]
rs9749325	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9749492	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv911638	chr19:36265508-36537959	Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	esv3526489	chr19:36306483-36741945	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
4	esv3526490	chr19:36306483-36741945	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
5	esv1831737	chr19:36324324-36690874	Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	esv3397651	chr19:36326933-36377725	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv833812	chr19:36331913-36507594	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	nsv833813	chr19:36341181-36499431	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 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	chr19:36360200-36379000	Weak transcription	Aorta	Aorta
2	chr19:36361000-36389000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:36361200-36389200	Weak transcription	Right Atrium	heart
4	chr19:36362400-36378200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:36362600-36378000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr19:36366000-36378200	Weak transcription	Gastric	stomach
7	chr19:36367800-36378400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:36370400-36377600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr19:36370400-36379000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:36370400-36379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr19:36370600-36379000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:36370600-36379000	Weak transcription	NHDF-Ad	bronchial
13	chr19:36370600-36389000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr19:36370800-36377600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:36370800-36377800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr19:36370800-36377800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:36370800-36377800	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr19:36370800-36377800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr19:36370800-36377800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr19:36370800-36377800	Weak transcription	Adipose Nuclei	Adipose
21	chr19:36370800-36377800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr19:36370800-36377800	Weak transcription	Osteobl	bone
23	chr19:36370800-36378000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr19:36370800-36378000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr19:36370800-36378200	Weak transcription	Fetal Intestine Large	intestine
26	chr19:36370800-36378200	Weak transcription	Fetal Intestine Small	intestine
27	chr19:36370800-36378200	Weak transcription	Lung	lung
28	chr19:36370800-36378200	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr19:36370800-36378400	Weak transcription	Placenta	Placenta
30	chr19:36370800-36378400	Weak transcription	GM12878-XiMat	blood
31	chr19:36370800-36378800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:36370800-36378800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr19:36370800-36378800	Weak transcription	Stomach Mucosa	stomach
34	chr19:36370800-36378800	Weak transcription	Dnd41	blood
35	chr19:36370800-36379000	Weak transcription	Liver	Liver
36	chr19:36370800-36379000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr19:36370800-36379000	Weak transcription	Fetal Lung	lung
38	chr19:36370800-36379400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr19:36370800-36389200	Weak transcription	HSMM	muscle
40	chr19:36370800-36389400	Weak transcription	HUVEC	blood vessel
41	chr19:36370800-36389400	Weak transcription	NH-A	brain
42	chr19:36371000-36377600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:36371000-36377800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr19:36371000-36377800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:36371000-36377800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr19:36371000-36377800	Weak transcription	Spleen	Spleen
47	chr19:36371000-36378000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr19:36371000-36378000	Weak transcription	Brain Anterior Caudate	brain
49	chr19:36371000-36378000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr19:36371000-36378000	Weak transcription	Thymus	Thymus

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