Variant report

Variant	rs67870673
Chromosome Location	chr1:222731552-222731553
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:222731468..222733360-chr1:222941211..222943133,2	K562	blood:
2	chr1:222723739..222728526-chr1:222728539..222731564,4	K562	blood:
3	chr1:222724484..222728107-chr1:222728855..222732774,4	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10495195	0.87[EUR][1000 genomes]
rs11487854	0.94[ASN][1000 genomes]
rs17464254	0.87[EUR][1000 genomes]
rs17464836	0.84[EUR][1000 genomes]
rs2936032	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3008642	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34093838	0.83[EUR][1000 genomes]
rs34853495	0.83[EUR][1000 genomes]
rs66463396	0.87[EUR][1000 genomes]
rs67991082	0.87[EUR][1000 genomes]
rs72738208	0.86[EUR][1000 genomes]
rs74148132	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873203	chr1:222332906-222775000	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv2762168	chr1:222717698-222736854	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222720400-222732200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:222720400-222733800	Weak transcription	Fetal Kidney	kidney
3	chr1:222720800-222734000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:222720800-222742400	Weak transcription	NHLF	lung
5	chr1:222720800-222757400	Weak transcription	HSMMtube	muscle
6	chr1:222721000-222733000	Weak transcription	NH-A	brain
7	chr1:222721200-222762200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:222721800-222762400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:222722000-222745000	Weak transcription	Hela-S3	cervix
10	chr1:222722000-222755600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:222722000-222755800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:222723800-222742400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr1:222724000-222733400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:222724800-222750800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:222725200-222733600	Weak transcription	Colonic Mucosa	Colon
16	chr1:222725600-222762200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:222726600-222736800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:222727200-222737200	Strong transcription	Primary B cells from cord blood	blood
19	chr1:222727400-222732400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:222727600-222737400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:222727600-222762600	Weak transcription	Aorta	Aorta
22	chr1:222727800-222732400	Weak transcription	Brain Angular Gyrus	brain
23	chr1:222727800-222733000	Weak transcription	Right Ventricle	heart
24	chr1:222727800-222762400	Weak transcription	Thymus	Thymus
25	chr1:222728000-222732400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:222728000-222744400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:222728200-222762200	Weak transcription	Small Intestine	intestine
28	chr1:222728400-222737400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:222728400-222738600	Strong transcription	Primary B cells from peripheral blood	blood
30	chr1:222728600-222731800	Strong transcription	Fetal Brain Female	brain
31	chr1:222728600-222737000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:222728600-222744400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:222728800-222732600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:222728800-222733200	Weak transcription	HUVEC	blood vessel
35	chr1:222728800-222735200	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:222728800-222736200	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr1:222728800-222737000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:222728800-222737200	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:222728800-222737200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:222728800-222737400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr1:222728800-222746400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr1:222729000-222733400	Strong transcription	A549	lung
43	chr1:222729000-222737400	Strong transcription	Dnd41	blood
44	chr1:222729200-222731600	Strong transcription	Esophagus	oesophagus
45	chr1:222729200-222731800	Strong transcription	Rectal Smooth Muscle	rectum
46	chr1:222729200-222736000	Strong transcription	Fetal Lung	lung
47	chr1:222729200-222736200	Strong transcription	Ovary	ovary
48	chr1:222729200-222737000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:222729200-222737200	Strong transcription	Placenta	Placenta
50	chr1:222729200-222737400	Strong transcription	HUES48 Cell Line	embryonic stem cell

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