Variant report

Variant	rs35075707
Chromosome Location	chr1:165722005-165722006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165719684..165722558-chr1:165723344..165727845,5	K562	blood:
2	chr1:165720854..165729861-chr1:165736355..165740477,8	K562	blood:

Variant related genes	Relation type
ENSG00000224358	Chromatin interaction
ENSG00000143183	Chromatin interaction

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

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

rs_ID	r²[population]
rs11800205	1.00[ASN][1000 genomes]
rs17452017	1.00[ASN][1000 genomes]
rs1890080	1.00[ASN][1000 genomes]
rs35453580	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662032	0.83[EUR][1000 genomes]
rs71628391	0.81[EUR][1000 genomes]
rs9333460	1.00[ASN][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	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
3	nsv518886	chr1:165714187-165741646	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:165694600-165736800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr1:165705000-165724800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:165710400-165727000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:165711200-165736200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:165712200-165737000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:165712400-165726800	Weak transcription	Fetal Lung	lung
8	chr1:165712400-165727000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:165712400-165727200	Weak transcription	HMEC	breast
10	chr1:165712600-165722600	Weak transcription	HUVEC	blood vessel
11	chr1:165712600-165737000	Weak transcription	Colonic Mucosa	Colon
12	chr1:165712800-165722200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:165712800-165722400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:165713000-165722400	Weak transcription	Small Intestine	intestine
15	chr1:165713000-165722800	Weak transcription	GM12878-XiMat	blood
16	chr1:165713400-165722600	Weak transcription	NHDF-Ad	bronchial
17	chr1:165713400-165733600	Weak transcription	NHEK	skin
18	chr1:165713600-165722800	Weak transcription	Fetal Kidney	kidney
19	chr1:165713600-165737000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:165716800-165728000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr1:165717000-165724000	Strong transcription	Osteobl	bone
22	chr1:165717400-165724200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr1:165717400-165728000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:165718000-165725800	Weak transcription	HSMM	muscle
25	chr1:165718400-165725000	Weak transcription	Primary B cells from cord blood	blood
26	chr1:165718800-165722200	Weak transcription	NH-A	brain
27	chr1:165718800-165725600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr1:165719400-165723600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:165719600-165725000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:165720000-165725600	Strong transcription	Dnd41	blood
31	chr1:165720200-165723600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:165720200-165725600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr1:165720400-165722200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:165720800-165733400	Weak transcription	A549	lung
35	chr1:165721400-165723400	Strong transcription	Fetal Brain Female	brain
36	chr1:165721400-165725000	Strong transcription	NHLF	lung
37	chr1:165721600-165722400	Strong transcription	HSMMtube	muscle
38	chr1:165721600-165723800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:165721800-165722200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:165721800-165722200	Strong transcription	Primary B cells from peripheral blood	blood
41	chr1:165721800-165722200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:165721800-165722200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:165721800-165722200	Weak transcription	Brain Anterior Caudate	brain
44	chr1:165721800-165722200	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr1:165721800-165722200	Weak transcription	Pancreas	Pancrea
46	chr1:165721800-165722400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:165721800-165722600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:165721800-165722600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:165721800-165722600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr1:165721800-165722800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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