Variant report

Variant	rs236294
Chromosome Location	chr1:94119194-94119195
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:94118939-94120816	A549	lung:	n/a	n/a
2	POLR2A	chr1:94118762-94121779	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:94118982-94119635	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:94118754-94121235	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr1:94118032-94121009	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr1:94119048-94119351	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94118755..94120990-chr1:94126117..94127975,2	K562	blood:
2	chr1:94117141..94121029-chr1:94132853..94136106,3	K562	blood:

Variant related genes	Relation type
BCAR3	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs171030	1.00[AMR][1000 genomes]
rs1772780	1.00[AMR][1000 genomes]
rs180499	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs183539	1.00[AMR][1000 genomes]
rs236264	1.00[AMR][1000 genomes]
rs236265	1.00[YRI][hapmap]
rs236269	1.00[AMR][1000 genomes]
rs236272	1.00[AMR][1000 genomes]
rs236276	1.00[AMR][1000 genomes]
rs236279	1.00[AMR][1000 genomes]
rs236282	1.00[AMR][1000 genomes]
rs236286	1.00[AMR][1000 genomes]
rs236289	1.00[AMR][1000 genomes]
rs236290	1.00[AMR][1000 genomes]
rs236297	1.00[AMR][1000 genomes]
rs236298	1.00[AMR][1000 genomes]
rs236299	1.00[AMR][1000 genomes]
rs236314	1.00[AMR][1000 genomes]
rs236324	1.00[AMR][1000 genomes]
rs236325	1.00[AMR][1000 genomes]
rs236337	1.00[AMR][1000 genomes]
rs236338	1.00[AMR][1000 genomes]
rs236340	1.00[AMR][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94094200-94120400	Weak transcription	Psoas Muscle	Psoas
2	chr1:94095600-94125400	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
4	chr1:94101600-94128800	Weak transcription	Right Ventricle	heart
5	chr1:94102000-94119800	Weak transcription	HSMMtube	muscle
6	chr1:94102000-94125400	Weak transcription	Fetal Kidney	kidney
7	chr1:94102000-94125600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr1:94102600-94119200	Weak transcription	Fetal Intestine Small	intestine
9	chr1:94103000-94121800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr1:94103800-94135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:94106400-94126000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:94107200-94125600	Weak transcription	Aorta	Aorta
13	chr1:94107600-94119200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr1:94107800-94120000	Weak transcription	Primary B cells from cord blood	blood
15	chr1:94108200-94119400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:94108400-94119200	Weak transcription	NHLF	lung
17	chr1:94108600-94122200	Weak transcription	HUVEC	blood vessel
18	chr1:94108600-94130400	Weak transcription	Esophagus	oesophagus
19	chr1:94110000-94119200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:94110200-94124400	Strong transcription	NHEK	skin
21	chr1:94110800-94120800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:94110800-94127400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:94110800-94128800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:94110800-94130200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr1:94111200-94127600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:94111600-94126800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:94111800-94122200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:94111800-94127400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr1:94112400-94125800	Strong transcription	Hela-S3	cervix
30	chr1:94112400-94127400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr1:94113000-94122400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:94113800-94124200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:94114600-94125600	Weak transcription	Brain Substantia Nigra	brain
34	chr1:94114800-94119200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:94114800-94120200	Strong transcription	HMEC	breast
36	chr1:94115000-94119200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:94115000-94128800	Weak transcription	Left Ventricle	heart
38	chr1:94115000-94132000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:94116000-94120200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr1:94116400-94120800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:94116800-94120800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:94117200-94119400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:94117200-94119400	Enhancers	Ovary	ovary
44	chr1:94117200-94119800	Weak transcription	Osteobl	bone
45	chr1:94117200-94121000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:94117400-94120800	Strong transcription	Placenta	Placenta
47	chr1:94117400-94127400	Genic enhancers	Muscle Satellite Cultured Cells	--
48	chr1:94117400-94128800	Weak transcription	Spleen	Spleen
49	chr1:94117600-94119200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:94117600-94119800	Weak transcription	Brain Hippocampus Middle	brain

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