Variant report

Variant	rs34222337
Chromosome Location	chr1:161130021-161130022
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:161128767-161130122	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr1:161128814-161130166	MCF10A-Er-Src	breast:	n/a	n/a
3	REST	chr1:161128544-161130147	H1-neurons	neurons:	n/a	chr1:161129591-161129604
4	POLR2A	chr1:161128483-161130088	K562	blood:	n/a	n/a
5	POLR2A	chr1:161128624-161130284	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:161128573-161130479	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:161128554-161130062	GM12892	blood:	n/a	n/a
8	POLR2A	chr1:161128701-161130357	HepG2	liver:	n/a	n/a
9	POLR2A	chr1:161128568-161130055	K562	blood:	n/a	n/a
10	MAZ	chr1:161128742-161130037	IMR90	lung:	n/a	chr1:161129171-161129180 chr1:161129197-161129207 chr1:161129558-161129567
11	POLR2A	chr1:161128379-161130298	K562	blood:	n/a	n/a
12	HCFC1	chr1:161128410-161130377	Hela-S3	cervix:	n/a	n/a
13	REST	chr1:161128627-161130041	A549	lung:	n/a	chr1:161129591-161129604
14	POLR2A	chr1:161128544-161130028	GM12892	blood:	n/a	n/a
15	POLR2A	chr1:161128335-161130429	K562	blood:	n/a	n/a
16	HEY1	chr1:161129006-161130368	K562	blood:	n/a	n/a
17	POLR2A	chr1:161128550-161131005	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr1:161128754-161130534	HUVEC	blood vessel:	n/a	n/a
19	POLR2A	chr1:161128188-161130127	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr1:161128971-161130265	K562	blood:	n/a	chr1:161129553-161129560
21	POLR2A	chr1:161128410-161130469	HepG2	liver:	n/a	n/a
22	POLR2A	chr1:161128344-161130244	A549	lung:	n/a	n/a
23	POLR2A	chr1:161128573-161130103	Hela-S3	cervix:	n/a	n/a
24	MTA3	chr1:161128574-161130068	GM12878	blood:	n/a	n/a
25	NRF1	chr1:161128499-161130299	SK-N-SH	brain:	n/a	chr1:161129252-161129263

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:161100691..161104235-chr1:161128857..161130819,4	K562	blood:
2	chr1:161067905..161072134-chr1:161127935..161131211,3	MCF-7	breast:
3	chr1:160231832..160233674-chr1:161127837..161130606,2	MCF-7	breast:
4	chr1:160989787..160992592-chr1:161127591..161130267,2	K562	blood:
5	chr1:161101050..161105947-chr1:161126092..161130683,11	K562	blood:
6	chr1:161128751..161130724-chr1:161170850..161173844,2	MCF-7	breast:
7	chr1:161129146..161131988-chr1:161170465..161172275,2	MCF-7	breast:
8	chr1:161085978..161089990-chr1:161127865..161134037,11	K562	blood:
9	chr1:161052998..161054950-chr1:161128036..161130636,2	MCF-7	breast:
10	chr1:161011414..161013032-chr1:161129851..161132212,2	K562	blood:
11	chr1:160989693..160991522-chr1:161127596..161130418,2	MCF-7	breast:
12	chr1:161101282..161104235-chr1:161127986..161130833,4	MCF-7	breast:
13	chr1:161085658..161090812-chr1:161125926..161133105,17	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224985	TF binding region
USP21	TF binding region
ENSG00000228917	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000132716	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000143256	Chromatin interaction
ENSG00000158864	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000158793	Chromatin interaction
ENSG00000162755	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3813615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	esv3489555	chr1:161129735-161131477	Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a
3	esv3489556	chr1:161129735-161131477	Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161128600-161130200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:161128600-161130800	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr1:161128800-161130200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr1:161129000-161130200	Active TSS	Brain Angular Gyrus	brain
5	chr1:161129000-161130200	Active TSS	Right Atrium	heart
6	chr1:161129000-161130400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:161129000-161130400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:161129600-161130200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr1:161129600-161130200	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr1:161129600-161130200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:161129600-161130200	Flanking Active TSS	Liver	Liver
12	chr1:161129600-161130200	Flanking Active TSS	Fetal Thymus	thymus
13	chr1:161129600-161130200	Flanking Active TSS	Stomach Mucosa	stomach
14	chr1:161129600-161130200	Flanking Active TSS	HUVEC	blood vessel
15	chr1:161129600-161130400	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr1:161129600-161130400	Flanking Active TSS	Primary T cells from cord blood	blood
17	chr1:161129600-161130400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:161129600-161130400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:161129600-161130400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:161129600-161130400	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr1:161129600-161130400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr1:161129600-161130400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
23	chr1:161129600-161130400	Flanking Active TSS	Thymus	Thymus
24	chr1:161129600-161130600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr1:161129600-161130600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:161129600-161130800	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr1:161129600-161130800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr1:161129600-161130800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr1:161129600-161131000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr1:161129600-161131000	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr1:161129800-161130200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:161129800-161130200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr1:161129800-161130200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:161129800-161130200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:161129800-161130200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:161129800-161130200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr1:161129800-161130200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr1:161129800-161130200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:161129800-161130200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:161129800-161130200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:161129800-161130200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
42	chr1:161129800-161130200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr1:161129800-161130200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr1:161129800-161130200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr1:161129800-161130200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr1:161129800-161130200	Flanking Active TSS	Fetal Heart	heart
47	chr1:161129800-161130200	Flanking Active TSS	Fetal Intestine Large	intestine
48	chr1:161129800-161130200	Flanking Active TSS	Fetal Intestine Small	intestine
49	chr1:161129800-161130200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr1:161129800-161130200	Flanking Active TSS	Fetal Muscle Trunk	muscle

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