Variant report

Variant	rs719662
Chromosome Location	chr1:114651006-114651007
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114650312..114651055-chr1:114757846..114758802,3	MCF-7	breast:
2	chr1:114649451..114652163-chr1:114653443..114655264,2	K562	blood:
3	chr1:114650188..114651033-chr1:114761777..114762403,2	MCF-7	breast:
4	chr1:114645148..114647343-chr1:114650102..114651737,2	MCF-7	breast:
5	chr1:114650141..114651043-chr16:67189132..67189782,2	MCF-7	breast:
6	chr1:114650119..114651429-chr1:114825151..114826103,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102871	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12140761	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17473706	0.83[CEU][hapmap]
rs4839361	0.90[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes]
rs6537810	0.89[CEU][hapmap];1.00[CHB][hapmap]
rs750905	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv1849780	chr1:114577463-114663164	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv528503	chr1:114649247-114653675	Enhancers Weak transcription Bivalent Enhancer Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114630400-114675800	Weak transcription	Pancreas	Pancrea
2	chr1:114632200-114661000	Weak transcription	Brain Germinal Matrix	brain
3	chr1:114640600-114658800	Weak transcription	Fetal Brain Female	brain
4	chr1:114644600-114653200	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr1:114646400-114651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:114647800-114652000	Enhancers	Fetal Intestine Large	intestine
7	chr1:114648000-114652000	Enhancers	Fetal Intestine Small	intestine
8	chr1:114648000-114655600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:114648600-114654800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:114648600-114655200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:114648800-114651200	Weak transcription	Fetal Stomach	stomach
12	chr1:114648800-114651600	Weak transcription	Fetal Lung	lung
13	chr1:114648800-114661600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:114649200-114651600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:114649200-114655400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:114649400-114661000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:114649600-114655600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr1:114649800-114652200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr1:114649800-114652800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:114650000-114651400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr1:114650000-114652800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:114650200-114651400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr1:114650200-114652600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:114650200-114652800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:114650200-114654600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr1:114650400-114651800	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr1:114650400-114652000	Enhancers	GM12878-XiMat	blood
28	chr1:114650400-114652400	Enhancers	Fetal Muscle Leg	muscle
29	chr1:114650400-114656200	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr1:114650600-114653400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr1:114650800-114652000	Enhancers	Primary hematopoietic stem cells	blood
32	chr1:114650800-114666000	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:114651000-114651400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:114651000-114651600	Enhancers	Brain Cingulate Gyrus	brain
35	chr1:114651000-114651800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:114651000-114652400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:114651000-114653200	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr1:114651000-114655400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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