Variant report

Variant	rs675628
Chromosome Location	chr10:38305331-38305332
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:38300184..38303990-chr10:38304744..38308090,4	K562	blood:
2	chr10:38298520..38302373-chr10:38302869..38306244,5	K562	blood:

Variant related genes	Relation type
ENSG00000189180	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs1007133	0.93[ASN][1000 genomes]
rs10764149	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10827844	0.93[ASN][1000 genomes]
rs11011384	0.83[ASN][1000 genomes]
rs11011401	0.93[ASN][1000 genomes]
rs11011405	0.93[ASN][1000 genomes]
rs11011426	1.00[ASN][1000 genomes]
rs11011431	1.00[ASN][1000 genomes]
rs1148287	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11594000	1.00[ASN][1000 genomes]
rs11598044	0.93[ASN][1000 genomes]
rs1208555	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208556	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208560	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208573	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208587	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208591	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208601	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1208633	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1208645	0.84[EUR][1000 genomes]
rs1208658	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1208695	0.83[EUR][1000 genomes]
rs1212108	0.84[EUR][1000 genomes]
rs1212617	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12357256	0.88[ASN][1000 genomes]
rs12571785	0.93[ASN][1000 genomes]
rs12768276	1.00[ASN][1000 genomes]
rs1322319	0.83[ASN][1000 genomes]
rs1735621	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1735629	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1735641	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1779068	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1779075	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2092993	0.93[ASN][1000 genomes]
rs2092995	1.00[ASN][1000 genomes]
rs2103936	1.00[ASN][1000 genomes]
rs2142346	0.95[ASN][1000 genomes]
rs2144845	0.91[ASN][1000 genomes]
rs2144848	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2245081	1.00[ASN][1000 genomes]
rs2295872	0.83[ASN][1000 genomes]
rs2472149	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2474548	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2474549	1.00[ASN][1000 genomes]
rs2505220	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2505233	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2505255	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2738185	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2738186	1.00[ASN][1000 genomes]
rs2738187	1.00[ASN][1000 genomes]
rs2738190	1.00[ASN][1000 genomes]
rs2738191	0.97[ASN][1000 genomes]
rs2738193	1.00[ASN][1000 genomes]
rs2738207	1.00[ASN][1000 genomes]
rs2738208	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2738209	1.00[ASN][1000 genomes]
rs2738210	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2738219	0.86[ASN][1000 genomes]
rs2738222	0.93[ASN][1000 genomes]
rs2749559	0.93[ASN][1000 genomes]
rs2749563	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2749569	0.89[ASN][1000 genomes]
rs2749575	1.00[ASN][1000 genomes]
rs2749577	1.00[ASN][1000 genomes]
rs2749586	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2749587	1.00[ASN][1000 genomes]
rs2749588	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2749589	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2749593	1.00[ASN][1000 genomes]
rs2753878	0.93[ASN][1000 genomes]
rs2753879	0.93[ASN][1000 genomes]
rs2753880	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2753882	0.93[ASN][1000 genomes]
rs2799495	0.93[ASN][1000 genomes]
rs2799496	0.97[ASN][1000 genomes]
rs2799499	0.97[ASN][1000 genomes]
rs2799501	0.90[ASN][1000 genomes]
rs2799505	0.93[ASN][1000 genomes]
rs2799506	0.93[ASN][1000 genomes]
rs2799507	0.93[ASN][1000 genomes]
rs2799509	0.93[ASN][1000 genomes]
rs594594	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596118	1.00[ASN][1000 genomes]
rs598857	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs615718	1.00[ASN][1000 genomes]
rs615974	0.83[ASN][1000 genomes]
rs61857002	0.93[ASN][1000 genomes]
rs61858886	0.88[ASN][1000 genomes]
rs624359	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs628330	1.00[ASN][1000 genomes]
rs633029	1.00[ASN][1000 genomes]
rs633400	0.97[ASN][1000 genomes]
rs637255	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs647617	0.97[ASN][1000 genomes]
rs650873	1.00[ASN][1000 genomes]
rs656126	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs658161	0.93[EUR][1000 genomes]
rs662928	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs688608	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9417282	0.82[ASN][1000 genomes]
rs9417283	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9418297	0.83[ASN][1000 genomes]
rs9418298	0.83[ASN][1000 genomes]
rs9418299	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895030	chr10:37715737-38674609	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv1045684	chr10:37765361-38426204	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv540564	chr10:37765361-38426204	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1040704	chr10:37940024-38451917	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv1051121	chr10:38155991-38426204	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv540565	chr10:38155991-38426204	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
7	nsv534122	chr10:38240258-38356008	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv540566	chr10:38301001-38680127	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv947853	chr10:38301938-38306401	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:38300400-38305800	Weak transcription	Ovary	ovary
2	chr10:38300400-38305800	Weak transcription	Spleen	Spleen
3	chr10:38300400-38306000	Weak transcription	Small Intestine	intestine
4	chr10:38300400-38319600	Weak transcription	Gastric	stomach
5	chr10:38300600-38306000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:38300600-38306000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr10:38300600-38318000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr10:38300600-38331600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:38300600-38336000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:38300600-38339400	Weak transcription	Psoas Muscle	Psoas
11	chr10:38300800-38305600	Weak transcription	NHDF-Ad	bronchial
12	chr10:38300800-38306200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:38300800-38306600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr10:38300800-38307000	Weak transcription	Colonic Mucosa	Colon
15	chr10:38300800-38307200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr10:38300800-38307600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr10:38300800-38308600	Weak transcription	HSMM	muscle
18	chr10:38300800-38322000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr10:38300800-38339200	Weak transcription	HSMMtube	muscle
20	chr10:38301000-38305800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr10:38301000-38306000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr10:38301200-38306000	Weak transcription	Right Ventricle	heart
23	chr10:38301200-38306400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr10:38301200-38307200	Weak transcription	Stomach Mucosa	stomach
25	chr10:38301200-38308400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr10:38301200-38308600	Weak transcription	Fetal Heart	heart
27	chr10:38301200-38311200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr10:38301200-38320400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr10:38301200-38325000	Weak transcription	NHLF	lung
30	chr10:38301400-38307200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:38301400-38307200	Weak transcription	K562	blood
32	chr10:38301400-38307400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr10:38301400-38307800	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr10:38301400-38308600	Strong transcription	Fetal Muscle Leg	muscle
35	chr10:38301400-38310000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:38301400-38314200	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr10:38301400-38316600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:38301400-38318800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr10:38301600-38305400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
40	chr10:38301600-38306000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr10:38301600-38306000	Weak transcription	Fetal Brain Male	brain
42	chr10:38301600-38307200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr10:38301600-38307200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:38301600-38307600	Strong transcription	Fetal Intestine Small	intestine
45	chr10:38301600-38308400	Strong transcription	Primary B cells from peripheral blood	blood
46	chr10:38301600-38312800	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr10:38301600-38320000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr10:38301800-38306400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr10:38301800-38307200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr10:38301800-38326600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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