Variant report

Variant	rs74140210
Chromosome Location	chr1:214777095-214777096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214777011..214779791-chr1:214784551..214787409,3	K562	blood:
2	chr1:214774784..214777425-chr1:214779446..214783969,6	K562	blood:
3	chr1:214452363..214455450-chr1:214775239..214777636,3	K562	blood:

Variant related genes	Relation type
ENSG00000224584	Chromatin interaction
ENSG00000143499	Chromatin interaction
ENSG00000250536	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11120366	1.00[EUR][1000 genomes]
rs17023266	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41277186	0.93[AFR][1000 genomes]
rs61445407	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61732022	0.82[EUR][1000 genomes]
rs61732031	0.82[EUR][1000 genomes]
rs7533166	0.82[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	nsv1004475	chr1:214763778-215013375	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv10993	chr1:214774207-214778763	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1005669	chr1:214774522-214994142	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 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	chr1:214775600-214777200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:214775600-214777400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:214775600-214777800	Active TSS	A549	lung
4	chr1:214775800-214777200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:214775800-214777200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:214775800-214777200	Active TSS	Brain Anterior Caudate	brain
7	chr1:214775800-214777200	Active TSS	Brain Hippocampus Middle	brain
8	chr1:214775800-214777200	Active TSS	Fetal Brain Female	brain
9	chr1:214775800-214777200	Active TSS	Fetal Muscle Trunk	muscle
10	chr1:214775800-214777200	Active TSS	Ovary	ovary
11	chr1:214775800-214777200	Active TSS	Psoas Muscle	Psoas
12	chr1:214775800-214777200	Active TSS	Right Atrium	heart
13	chr1:214775800-214777200	Active TSS	NH-A	brain
14	chr1:214775800-214777400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:214775800-214777400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:214775800-214777400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr1:214775800-214777600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:214775800-214777600	Active TSS	HSMMtube	muscle
19	chr1:214775800-214777800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:214775800-214777800	Active TSS	Fetal Intestine Small	intestine
21	chr1:214775800-214777800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr1:214775800-214777800	Active TSS	Rectal Smooth Muscle	rectum
23	chr1:214775800-214778000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:214775800-214778000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr1:214775800-214778000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:214775800-214778000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:214775800-214778000	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr1:214775800-214778200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:214775800-214778200	Active TSS	HSMM	muscle
30	chr1:214775800-214778600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr1:214775800-214778600	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr1:214776000-214777200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:214776000-214777200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr1:214776000-214777200	Active TSS	Aorta	Aorta
35	chr1:214776000-214777200	Flanking Active TSS	Liver	Liver
36	chr1:214776000-214777200	Active TSS	Fetal Brain Male	brain
37	chr1:214776000-214777200	Active TSS	Fetal Lung	lung
38	chr1:214776000-214777200	Active TSS	Fetal Thymus	thymus
39	chr1:214776000-214777400	Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:214776000-214777400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr1:214776000-214777600	Active TSS	Placenta Amnion	Placenta Amnion
42	chr1:214776000-214777600	Active TSS	Right Ventricle	heart
43	chr1:214776000-214777800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr1:214776000-214777800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr1:214776000-214777800	Active TSS	Fetal Heart	heart
46	chr1:214776000-214777800	Active TSS	NHDF-Ad	bronchial
47	chr1:214776000-214778200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:214776000-214778600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr1:214776000-214778600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr1:214776000-214778600	Active TSS	GM12878-XiMat	blood

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