Variant report

Variant	rs74140504
Chromosome Location	chr1:212988682-212988683
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:212988120..212988960-chr1:213088354..213089047,3	K562	blood:
2	chr1:212986600..212989235-chr1:213030292..213032089,2	K562	blood:
3	chr1:212987979..212990902-chr1:213030404..213032283,2	MCF-7	breast:
4	chr1:212988079..212988704-chr1:213168950..213169514,2	K562	blood:

Variant related genes	Relation type
ENSG00000198468	Chromatin interaction
ENSG00000162769	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11801740	1.00[EUR][1000 genomes]
rs11807916	1.00[EUR][1000 genomes]
rs17019640	1.00[EUR][1000 genomes]
rs17019657	1.00[EUR][1000 genomes]
rs28505349	1.00[EUR][1000 genomes]
rs41296716	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs41300963	1.00[EUR][1000 genomes]
rs55787749	1.00[EUR][1000 genomes]
rs55827218	1.00[EUR][1000 genomes]
rs60267007	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60334006	1.00[EUR][1000 genomes]
rs6675972	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6685348	1.00[EUR][1000 genomes]
rs6700258	1.00[EUR][1000 genomes]
rs74138622	1.00[EUR][1000 genomes]
rs74138623	1.00[EUR][1000 genomes]
rs74138629	1.00[EUR][1000 genomes]
rs74138630	1.00[EUR][1000 genomes]
rs74138631	1.00[EUR][1000 genomes]
rs74138632	1.00[EUR][1000 genomes]
rs74138633	1.00[EUR][1000 genomes]
rs74138636	1.00[EUR][1000 genomes]
rs74138700	1.00[EUR][1000 genomes]
rs74140506	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74140512	1.00[EUR][1000 genomes]
rs74141106	1.00[EUR][1000 genomes]
rs7511916	1.00[EUR][1000 genomes]
rs7523527	1.00[EUR][1000 genomes]
rs7551969	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	nsv1001637	chr1:212907611-213034606	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2756884	chr1:212925429-213006397	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2758997	chr1:212925429-213006397	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212965800-212992600	Weak transcription	Lung	lung
2	chr1:212966000-212997400	Weak transcription	Aorta	Aorta
3	chr1:212966400-212989600	Weak transcription	Fetal Brain Male	brain
4	chr1:212966400-212990200	Weak transcription	Right Ventricle	heart
5	chr1:212966800-212989600	Weak transcription	Psoas Muscle	Psoas
6	chr1:212967200-212989000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:212967200-212989600	Weak transcription	NHLF	lung
8	chr1:212969600-212989000	Weak transcription	HepG2	liver
9	chr1:212969600-212993000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:212970600-212989600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:212971000-212989200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:212971200-212990200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr1:212972400-212993600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:212972600-212989800	Weak transcription	HSMMtube	muscle
15	chr1:212972600-212990200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:212975600-212989600	Weak transcription	Brain Angular Gyrus	brain
17	chr1:212975800-212997800	Weak transcription	Brain Substantia Nigra	brain
18	chr1:212976000-212989600	Weak transcription	HSMM	muscle
19	chr1:212976000-212989600	Weak transcription	K562	blood
20	chr1:212976000-212990200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:212976000-212990200	Weak transcription	Fetal Brain Female	brain
22	chr1:212976200-212998800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:212978200-212989600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr1:212978200-212989800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr1:212978400-212989800	Weak transcription	Brain Germinal Matrix	brain
26	chr1:212979200-212994200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr1:212979600-212989800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:212979600-212992000	Weak transcription	Brain Anterior Caudate	brain
29	chr1:212979600-212993200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:212979600-213001000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:212980000-212989600	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:212980800-213001000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:212981000-212990400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr1:212981600-212990400	Weak transcription	Fetal Muscle Leg	muscle
35	chr1:212982400-212989600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:212982400-212990400	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr1:212982600-212989600	Weak transcription	Fetal Lung	lung
38	chr1:212982600-212990000	Weak transcription	Hela-S3	cervix
39	chr1:212982600-212990400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:212982600-212992800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr1:212982800-212989800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:212982800-212989800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:212982800-212992200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:212982800-212992600	Weak transcription	Placenta	Placenta
45	chr1:212984800-212989600	Weak transcription	Fetal Stomach	stomach
46	chr1:212985400-212989400	Strong transcription	Primary B cells from peripheral blood	blood
47	chr1:212985600-212989000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:212986400-212988800	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr1:212986400-212988800	Strong transcription	Fetal Thymus	thymus
50	chr1:212986800-212988800	Strong transcription	Left Ventricle	heart

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