Variant report

Variant	rs41308156
Chromosome Location	chr1:247013203-247013204
allele	A/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	chr1:247013173-247013311	K562	blood:	n/a	n/a

Variant related genes	Relation type
AHCTF1	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12239497	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13374054	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1779983	1.00[AMR][1000 genomes]
rs59979296	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74152741	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74152745	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74152747	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv873421	chr1:246818634-247044692	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv2762192	chr1:246823857-247069232	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1006271	chr1:246832606-247276182	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv535416	chr1:246832606-247276182	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv1011346	chr1:246868799-247133898	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	esv1810844	chr1:246988018-247054824	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv873424	chr1:246991094-247366380	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv945433	chr1:247012707-247015035	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:247000200-247020200	Weak transcription	Spleen	Spleen
2	chr1:247001400-247016400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:247001400-247020000	Weak transcription	Brain Substantia Nigra	brain
4	chr1:247002000-247038200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:247002200-247031400	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr1:247002200-247033800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:247002200-247034200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:247002200-247082400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr1:247002400-247081000	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:247002800-247032600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:247002800-247043200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:247003000-247015200	Weak transcription	Fetal Heart	heart
13	chr1:247003000-247015200	Weak transcription	NHLF	lung
14	chr1:247003000-247018600	Weak transcription	Fetal Brain Male	brain
15	chr1:247003200-247015200	Weak transcription	Esophagus	oesophagus
16	chr1:247003200-247020400	Weak transcription	Gastric	stomach
17	chr1:247003200-247029200	Strong transcription	Fetal Thymus	thymus
18	chr1:247003200-247042200	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:247003200-247042800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:247003400-247022600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:247003400-247043000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:247003400-247044600	Strong transcription	Dnd41	blood
23	chr1:247004000-247013600	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr1:247004000-247022200	Strong transcription	Fetal Intestine Large	intestine
25	chr1:247004000-247040800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:247004000-247041200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr1:247004000-247042800	Strong transcription	Primary T cells from cord blood	blood
28	chr1:247004000-247053600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:247004200-247013400	Strong transcription	HSMMtube	muscle
30	chr1:247004200-247018400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:247004200-247021200	Strong transcription	A549	lung
32	chr1:247004200-247025200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:247004200-247025400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr1:247004200-247042400	Strong transcription	Primary B cells from peripheral blood	blood
35	chr1:247004200-247042800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:247004200-247043000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr1:247004200-247044400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:247004200-247044400	Strong transcription	Liver	Liver
39	chr1:247004200-247083400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:247004400-247025200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr1:247004400-247025200	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:247004400-247025400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr1:247004400-247025600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:247004400-247043000	Strong transcription	Adipose Nuclei	Adipose
45	chr1:247004400-247044600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:247004600-247020200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr1:247005000-247015800	Weak transcription	Pancreas	Pancrea
48	chr1:247005200-247025600	Strong transcription	Fetal Muscle Leg	muscle
49	chr1:247005200-247079800	Weak transcription	Stomach Mucosa	stomach
50	chr1:247005800-247025400	Strong transcription	Primary B cells from cord blood	blood

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