Variant report

Variant	rs71628391
Chromosome Location	chr1:165745304-165745305
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165736876..165739888-chr1:165742992..165745550,3	K562	blood:
2	chr1:165716621..165718197-chr1:165744435..165745968,2	MCF-7	breast:
3	chr1:165737990..165739807-chr1:165744818..165747510,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UCK2-4	chr1:165745187-165745388	NONHSAT007337

Variant related genes	Relation type
ENSG00000143183	Chromatin interaction
ENSG00000224358	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs35075707	0.81[EUR][1000 genomes]
rs35453580	0.81[EUR][1000 genomes]
rs6662032	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 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	chr1:165739200-165745400	Weak transcription	Brain Anterior Caudate	brain
2	chr1:165739200-165745400	Weak transcription	Right Ventricle	heart
3	chr1:165739200-165745600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:165739200-165745600	Weak transcription	Lung	lung
5	chr1:165739200-165746000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:165739400-165745600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:165739600-165745400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:165739600-165745400	Weak transcription	Pancreas	Pancrea
9	chr1:165739600-165745600	Weak transcription	Fetal Muscle Leg	muscle
10	chr1:165740000-165745400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:165740000-165747800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:165740200-165745400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:165740200-165745400	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:165740200-165745600	Weak transcription	Liver	Liver
15	chr1:165740200-165745600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr1:165741000-165745600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:165742800-165752000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:165743000-165745400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr1:165743200-165745400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:165743200-165745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:165743200-165745600	Weak transcription	HSMMtube	muscle
22	chr1:165743200-165745800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:165743200-165745800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:165743200-165753200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:165743200-165756600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:165743400-165747000	Weak transcription	Brain Substantia Nigra	brain
27	chr1:165743400-165748000	Weak transcription	Adipose Nuclei	Adipose
28	chr1:165744000-165745600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr1:165744000-165745600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:165744000-165745800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:165744000-165745800	Weak transcription	Fetal Stomach	stomach
32	chr1:165744200-165745800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:165744200-165746000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:165744400-165746400	Weak transcription	Osteobl	bone
35	chr1:165744600-165746200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:165744600-165746400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:165745000-165746600	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:165745200-165747000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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