Variant report

Variant	rs55940503
Chromosome Location	chr1:93636361-93636362
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:93634900..93638789-chr1:93645766..93648751,3	K562	blood:
2	chr1:93635790..93638492-chr1:93639188..93641506,2	K562	blood:
3	chr1:93631186..93632972-chr1:93634578..93637260,2	K562	blood:

Variant related genes	Relation type
ENSG00000117500	Chromatin interaction
ENSG00000122483	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10157785	1.00[EUR][1000 genomes]
rs1054165	1.00[EUR][1000 genomes]
rs11799859	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11801977	1.00[EUR][1000 genomes]
rs11802421	1.00[EUR][1000 genomes]
rs11805046	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11807404	1.00[EUR][1000 genomes]
rs11808266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12239921	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17131715	1.00[EUR][1000 genomes]
rs17131717	1.00[EUR][1000 genomes]
rs1932313	1.00[EUR][1000 genomes]
rs55959166	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57353954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58505360	1.00[EUR][1000 genomes]
rs59045869	1.00[EUR][1000 genomes]
rs60517691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60868033	1.00[EUR][1000 genomes]
rs61671588	1.00[EUR][1000 genomes]
rs6541360	1.00[EUR][1000 genomes]
rs6541378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677862	1.00[EUR][1000 genomes]
rs6678465	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6688132	1.00[EUR][1000 genomes]
rs6688513	1.00[EUR][1000 genomes]
rs6691556	1.00[EUR][1000 genomes]
rs72955374	1.00[EUR][1000 genomes]
rs72955379	1.00[EUR][1000 genomes]
rs72957300	1.00[EUR][1000 genomes]
rs72961310	1.00[EUR][1000 genomes]
rs74101439	1.00[EUR][1000 genomes]
rs74101447	1.00[EUR][1000 genomes]
rs74101453	1.00[EUR][1000 genomes]
rs74101464	1.00[EUR][1000 genomes]
rs74104019	0.83[AMR][1000 genomes]
rs7518171	1.00[EUR][1000 genomes]
rs7530923	1.00[EUR][1000 genomes]
rs7545358	1.00[EUR][1000 genomes]
rs754899	1.00[EUR][1000 genomes]
rs9662414	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv830625	chr1:93566378-93735246	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS 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	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93580200-93643600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:93582400-93642800	Weak transcription	Gastric	stomach
3	chr1:93585800-93642200	Weak transcription	Esophagus	oesophagus
4	chr1:93601000-93643600	Weak transcription	HSMMtube	muscle
5	chr1:93606000-93644600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:93611800-93644600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:93615600-93643200	Weak transcription	Fetal Kidney	kidney
8	chr1:93621400-93636800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr1:93621400-93637800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:93621400-93640000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:93621400-93643000	Weak transcription	HMEC	breast
12	chr1:93621400-93643800	Weak transcription	Colonic Mucosa	Colon
13	chr1:93621600-93641400	Weak transcription	NHEK	skin
14	chr1:93622200-93637200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr1:93622400-93636400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr1:93624000-93637200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:93624000-93643400	Weak transcription	NH-A	brain
18	chr1:93624000-93643600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr1:93624200-93636400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr1:93624400-93643600	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:93624800-93636400	Weak transcription	Primary T cells from cord blood	blood
22	chr1:93624800-93641600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:93624800-93643600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr1:93624800-93643600	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr1:93625000-93636600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:93625000-93640000	Weak transcription	K562	blood
27	chr1:93625000-93641200	Weak transcription	HSMM	muscle
28	chr1:93625200-93637200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr1:93625400-93636600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:93625600-93637600	Weak transcription	NHLF	lung
31	chr1:93625800-93637000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:93625800-93637400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:93625800-93640200	Weak transcription	HUVEC	blood vessel
34	chr1:93625800-93641600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr1:93625800-93643400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:93626000-93641200	Weak transcription	NHDF-Ad	bronchial
37	chr1:93626200-93637000	Weak transcription	HepG2	liver
38	chr1:93627000-93637200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr1:93627400-93638000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:93630000-93637200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:93630400-93637400	Weak transcription	Osteobl	bone
42	chr1:93630400-93641600	Weak transcription	Right Atrium	heart
43	chr1:93630800-93636600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:93630800-93636800	Weak transcription	Primary hematopoietic stem cells	blood
45	chr1:93630800-93636800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:93630800-93637400	Weak transcription	Small Intestine	intestine
47	chr1:93630800-93642000	Weak transcription	Left Ventricle	heart
48	chr1:93631800-93636800	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:93632800-93639600	Weak transcription	Psoas Muscle	Psoas
50	chr1:93632800-93640000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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