Variant report

Variant	rs1770778
Chromosome Location	chr1:213089037-213089038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:213087453..213089849-chr1:213098017..213100027,2	K562	blood:
2	chr1:212963885..212966841-chr1:213087848..213090181,3	K562	blood:
3	chr1:213088698..213090352-chr1:213094141..213096256,2	K562	blood:
4	chr1:213088299..213089124-chr10:91087481..91088095,2	Hela-S3	cervix:
5	chr1:212838488..212839107-chr1:213088444..213089233,2	K562	blood:
6	chr1:212923025..212923977-chr1:213088635..213089225,2	K562	blood:
7	chr1:213088750..213091393-chr1:213108145..213110146,2	K562	blood:
8	chr1:212988120..212988960-chr1:213088354..213089047,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117697	Chromatin interaction
ENSG00000119917	Chromatin interaction
ENSG00000237980	Chromatin interaction
ENSG00000203705	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10127459	1.00[ASN][1000 genomes]
rs10746436	1.00[ASN][1000 genomes]
rs10779594	1.00[ASN][1000 genomes]
rs10864003	1.00[ASN][1000 genomes]
rs10864019	1.00[ASN][1000 genomes]
rs11120033	1.00[ASN][1000 genomes]
rs12036735	1.00[ASN][1000 genomes]
rs1284800	1.00[ASN][1000 genomes]
rs1284864	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1615680	1.00[ASN][1000 genomes]
rs1692178	1.00[ASN][1000 genomes]
rs1692179	1.00[ASN][1000 genomes]
rs1692180	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17020044	1.00[ASN][1000 genomes]
rs17020046	1.00[ASN][1000 genomes]
rs1770777	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1874419	1.00[ASN][1000 genomes]
rs2047289	1.00[ASN][1000 genomes]
rs2047293	1.00[ASN][1000 genomes]
rs2359321	1.00[CEU][hapmap]
rs2359324	1.00[ASN][1000 genomes]
rs2644545	1.00[ASN][1000 genomes]
rs2792558	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2792560	1.00[ASN][1000 genomes]
rs2792561	1.00[ASN][1000 genomes]
rs35976699	1.00[ASN][1000 genomes]
rs41315581	1.00[ASN][1000 genomes]
rs4951649	1.00[ASN][1000 genomes]
rs59252582	1.00[ASN][1000 genomes]
rs6540768	1.00[ASN][1000 genomes]
rs6666362	1.00[ASN][1000 genomes]
rs6667161	1.00[ASN][1000 genomes]
rs6674933	1.00[ASN][1000 genomes]
rs6689134	1.00[ASN][1000 genomes]
rs6703612	1.00[ASN][1000 genomes]
rs7528119	1.00[ASN][1000 genomes]
rs7533932	1.00[ASN][1000 genomes]
rs7542906	1.00[ASN][1000 genomes]
rs963327	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008383	chr1:213025546-213114894	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:213079600-213090000	Weak transcription	Right Atrium	heart
2	chr1:213086800-213094400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:213087200-213089800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:213088000-213089200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:213088000-213089200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr1:213088000-213089400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:213088000-213089800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:213088000-213090200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:213088000-213090400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:213088000-213090400	Enhancers	Fetal Brain Male	brain
11	chr1:213088000-213090600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr1:213088000-213090600	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr1:213088000-213090800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:213088200-213089200	Enhancers	Fetal Muscle Leg	muscle
15	chr1:213088200-213089600	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr1:213088200-213089600	Enhancers	Fetal Heart	heart
17	chr1:213088200-213090200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:213088200-213090600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:213088200-213090600	Enhancers	Fetal Muscle Trunk	muscle
20	chr1:213088400-213089600	Flanking Active TSS	A549	lung
21	chr1:213088400-213089800	Enhancers	Brain Hippocampus Middle	brain
22	chr1:213088400-213089800	Enhancers	HSMMtube	muscle
23	chr1:213088400-213090400	Enhancers	Fetal Lung	lung
24	chr1:213088400-213090600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:213088400-213090600	Enhancers	K562	blood
26	chr1:213088400-213090800	Enhancers	GM12878-XiMat	blood
27	chr1:213088600-213089200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:213088600-213089200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:213088600-213089200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:213088600-213089200	Flanking Active TSS	Hela-S3	cervix
31	chr1:213088600-213089200	Flanking Active TSS	HepG2	liver
32	chr1:213088600-213089600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:213088600-213089600	Enhancers	HSMM	muscle
34	chr1:213088600-213090000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr1:213088600-213090000	Enhancers	Fetal Intestine Large	intestine
36	chr1:213088600-213090400	Enhancers	Brain Angular Gyrus	brain
37	chr1:213088600-213090400	Enhancers	Placenta	Placenta
38	chr1:213088800-213089200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:213088800-213089200	Enhancers	Stomach Smooth Muscle	stomach
40	chr1:213088800-213089600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:213088800-213089800	Weak transcription	Fetal Thymus	thymus
42	chr1:213088800-213089800	Enhancers	Osteobl	bone
43	chr1:213088800-213090000	Enhancers	H1 Cell Line	embryonic stem cell
44	chr1:213088800-213090000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:213088800-213090000	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr1:213088800-213090000	Weak transcription	Fetal Kidney	kidney
47	chr1:213088800-213090200	Weak transcription	Brain Anterior Caudate	brain
48	chr1:213088800-213090800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr1:213089000-213089200	Enhancers	H9 Cell Line	embryonic stem cell
50	chr1:213089000-213089200	Enhancers	Pancreas	Pancrea

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