Variant report

Variant	rs2774281
Chromosome Location	chr1:114648506-114648507
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:114618845..114623942-chr1:114646339..114650725,5	K562	blood:
2	chr1:114644124..114646384-chr1:114646866..114650203,3	MCF-7	breast:
3	chr1:114647802..114648660-chr16:67189250..67189815,2	MCF-7	breast:
4	chr1:114633144..114634920-chr1:114648218..114649973,2	MCF-7	breast:
5	chr1:114647200..114648760-chr1:114757392..114758723,8	MCF-7	breast:
6	chr1:114640429..114643571-chr1:114646249..114649896,5	MCF-7	breast:
7	chr1:114623443..114625086-chr1:114646378..114649376,2	MCF-7	breast:
8	chr1:114647535..114648527-chr1:114825432..114826014,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000102871	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1330700	1.00[ASW][hapmap]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2774281	ST7L	cis	cerebellum	SCAN

Chromatin state (count:37 , 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	chr1:114645000-114648800	Enhancers	Fetal Muscle Leg	muscle
6	chr1:114646200-114648600	Enhancers	HSMMtube	muscle
7	chr1:114646400-114651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:114646800-114649000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:114647200-114650600	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr1:114647200-114650600	Weak transcription	Psoas Muscle	Psoas
11	chr1:114647200-114651000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr1:114647400-114649600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:114647400-114649800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:114647400-114650000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:114647400-114650200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr1:114647600-114651000	Enhancers	Fetal Muscle Trunk	muscle
17	chr1:114647800-114648600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:114647800-114648800	Enhancers	Fetal Stomach	stomach
19	chr1:114647800-114649200	Genic enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:114647800-114649400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:114647800-114650200	Genic enhancers	H1 Cell Line	embryonic stem cell
22	chr1:114647800-114650200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:114647800-114651000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:114647800-114652000	Enhancers	Fetal Intestine Large	intestine
25	chr1:114648000-114648800	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:114648000-114649000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr1:114648000-114652000	Enhancers	Fetal Intestine Small	intestine
28	chr1:114648000-114655600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
29	chr1:114648200-114648600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr1:114648200-114648600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
31	chr1:114648200-114648600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:114648200-114648800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:114648200-114648800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr1:114648200-114648800	Enhancers	Fetal Lung	lung
35	chr1:114648200-114649000	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr1:114648200-114649200	Genic enhancers	H9 Cell Line	embryonic stem cell
37	chr1:114648400-114649200	Genic enhancers	iPS-15b Cell Line	embryonic stem cell

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