Variant report

Variant	rs41274458
Chromosome Location	chr1:10363664-10363665
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:10363631-10363681	PFSK-1	brain:	n/a
2	chr1:10363631-10363681	HCM	heart:	n/a
3	chr1:10363631-10363681	U87	brain:	n/a
4	chr1:10363631-10363681	NH-A	brain:	n/a
5	chr1:10363631-10363681	LNCaP	prostate:	n/a
6	chr1:10363631-10363681	HIPEpiC	eye:	n/a
7	chr1:10363631-10363681	HRE	kidney:	n/a
8	chr1:10363631-10363681	GM12891	blood:	n/a
9	chr1:10363631-10363681	AG04449	skin:	fetal
10	chr1:10363631-10363681	HNPCEpiC	eye:	n/a
11	chr1:10363631-10363681	HMEC	breast:	n/a
12	chr1:10363631-10363681	MCF-7	breast:	n/a
13	chr1:10363631-10363681	CMK	blood:	n/a
14	chr1:10363631-10363681	GM19239	blood:	n/a
15	chr1:10363631-10363681	AG09319	gingival:	n/a
16	chr1:10363631-10363681	HEEpiC	esophagus:	n/a
17	chr1:10363631-10363681	AG09309	skin:	n/a
18	chr1:10363631-10363681	HRCEpiC	kidney:	n/a
19	chr1:10363631-10363681	HepG2	liver:	n/a
20	chr1:10363631-10363681	PANC-1	pancreas:	n/a
21	chr1:10363631-10363681	SKMC	muscle:	n/a
22	chr1:10363631-10363681	ECC-1	luminal epithelium:	n/a
23	chr1:10363631-10363681	K562	blood:	n/a
24	chr1:10363631-10363681	Jurkat	blood:	n/a
25	chr1:10363631-10363681	PrEC	prostate:	n/a
26	chr1:10363631-10363681	SK-N-MC	brain:	n/a
27	chr1:10363631-10363681	HRPEpiC	eye:	n/a
28	chr1:10363631-10363681	NHDF-neo	bronchial:	n/a
29	chr1:10363631-10363681	A549	lung:	n/a
30	chr1:10363631-10363681	HAEpiC	amniotic membrane:	n/a
31	chr1:10363631-10363681	SK-N-SH	brain:	n/a
32	chr1:10363631-10363681	HCT-116	colon:	n/a
33	chr1:10363631-10363681	HUVEC	blood vessel:	n/a
34	chr1:10363631-10363681	HCPEpiC	choroid plexus:	n/a
35	chr1:10363631-10363681	NT2-D1	testis:	n/a
36	chr1:10363631-10363681	SAEC	small airway:	n/a
37	chr1:10363631-10363681	Hela-S3	cervix:	n/a
38	chr1:10363631-10363681	ProgFib	skin:	n/a
39	chr1:10363631-10363681	RPTEC	kidney:	n/a
40	chr1:10363631-10363681	GM06990	blood:	n/a
41	chr1:10363631-10363681	BE2_C	brain:	n/a
42	chr1:10363631-10363681	ovcar-3	ovarian:	n/a
43	chr1:10363631-10363681	IMR90	lung:	fetal
44	chr1:10363631-10363681	MCF10A-Er-Src	breast:	n/a
45	chr1:10363631-10363681	HL-60	blood:	n/a
46	chr1:10363631-10363681	Caco-2	colon:	n/a
47	chr1:10363631-10363681	NHBE	bronchial:	n/a
48	chr1:10363631-10363681	NB4	blood:	n/a
49	chr1:10363631-10363681	SK-N-SH_RA	brain:	n/a
50	chr1:10363631-10363681	Hepatocyte	liver:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:10359376..10361035-chr1:10362678..10364311,2	K562	blood:
2	chr1:10362670..10364666-chr1:10366413..10368090,2	K562	blood:
3	chr1:10362813..10365795-chr1:10373892..10375674,2	K562	blood:
4	chr1:10362138..10364567-chr1:10385021..10386678,2	K562	blood:

No data

Variant related genes	Relation type
RN7SL731P	CpG island
ENSG00000264501	Chromatin interaction

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

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

rs_ID	r²[population]
rs41274462	1.00[EUR][1000 genomes]
rs41274464	1.00[EUR][1000 genomes]
rs41274466	1.00[EUR][1000 genomes]
rs41280816	0.86[EUR][1000 genomes]
rs56164683	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757722	chr1:10238070-10582554	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv2758920	chr1:10238070-10582554	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv545381	chr1:10296452-10423988	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv545382	chr1:10309026-10377221	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 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	chr1:10272600-10368200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:10315400-10373400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:10316800-10380200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:10318400-10367600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr1:10331600-10368000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr1:10332200-10363800	Weak transcription	Thymus	Thymus
7	chr1:10347400-10365400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:10347800-10366800	Strong transcription	HSMM	muscle
9	chr1:10348200-10367600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr1:10349800-10369400	Weak transcription	Right Atrium	heart
11	chr1:10352000-10366800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr1:10352600-10366000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:10352600-10381800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:10353200-10381800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:10355000-10366000	Strong transcription	Liver	Liver
16	chr1:10356600-10368000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:10356800-10367800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr1:10356800-10368000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr1:10357200-10368000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:10357400-10385600	Weak transcription	Small Intestine	intestine
21	chr1:10357600-10397000	Weak transcription	Fetal Thymus	thymus
22	chr1:10357800-10363800	Weak transcription	Fetal Heart	heart
23	chr1:10358000-10367000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:10358000-10367800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:10358000-10381800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr1:10358200-10367000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:10358400-10369400	Weak transcription	Psoas Muscle	Psoas
28	chr1:10358600-10363800	Weak transcription	Fetal Lung	lung
29	chr1:10358600-10366200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr1:10358600-10381800	Weak transcription	Primary T cells from cord blood	blood
31	chr1:10358800-10407000	Weak transcription	Primary B cells from cord blood	blood
32	chr1:10359800-10363800	Weak transcription	HMEC	breast
33	chr1:10360000-10366200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr1:10360000-10370200	Weak transcription	GM12878-XiMat	blood
35	chr1:10360400-10366200	Strong transcription	NHDF-Ad	bronchial
36	chr1:10361000-10364000	Strong transcription	Left Ventricle	heart
37	chr1:10361200-10366400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:10361400-10364800	Strong transcription	Fetal Stomach	stomach
39	chr1:10361600-10366400	Strong transcription	Adipose Nuclei	Adipose
40	chr1:10361800-10365600	Strong transcription	Hela-S3	cervix
41	chr1:10361800-10365800	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr1:10361800-10366000	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr1:10361800-10366000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:10361800-10366200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:10361800-10366200	Strong transcription	HepG2	liver
46	chr1:10361800-10366600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr1:10361800-10370800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr1:10362000-10366400	Strong transcription	HUVEC	blood vessel
49	chr1:10362000-10366800	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr1:10362400-10366000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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