Variant report

Variant	rs57160839
Chromosome Location	chr1:158969133-158969134
allele	C/T
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	chr1:158969107-158970988	U87	brain:	n/a	n/a
2	POLR2A	chr1:158969110-158970982	U87	brain:	n/a	n/a
3	MAZ	chr1:158968421-158970865	IMR90	lung:	n/a	n/a
4	KAP1	chr1:158969072-158970917	U2OS	brain:	n/a	n/a
5	SIN3A	chr1:158968579-158970048	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr1:158968441-158970901	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr1:158968556-158971118	MCF10A-Er-Src	breast:	n/a	chr1:158969771-158969779 chr1:158969771-158969794 chr1:158969282-158969294
8	POLR2A	chr1:158968491-158970130	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr1:158968847-158969949	HUVEC	blood vessel:	n/a	n/a
10	MAFK	chr1:158969127-158969983	H1-hESC	embryonic stem cell:	n/a	n/a
11	FOS	chr1:158968719-158969872	HUVEC	blood vessel:	n/a	n/a
12	CTCF	chr1:158968256-158969175	A549	lung:	n/a	chr1:158968651-158968669 chr1:158968646-158968667 chr1:158968653-158968666 chr1:158968279-158968300 chr1:158968652-158968668
13	YY1	chr1:158968525-158969392	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:158640177..158642154-chr1:158966970..158969167,2	K562	blood:

Variant related genes	Relation type
IFI16	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs3026924	1.00[AMR][1000 genomes]
rs59448416	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59635124	1.00[AMR][1000 genomes]
rs59654278	1.00[AMR][1000 genomes]
rs6664453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7519244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7539283	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7556046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002401	chr1:158712627-158972031	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv3376764	chr1:158761947-158998617	Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3369957	chr1:158915589-159003393	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv3176	chr1:158955373-158986568	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv1793882	chr1:158961777-158972490	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv548043	chr1:158963127-158972490	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158960800-158975400	Weak transcription	Spleen	Spleen
2	chr1:158967400-158969400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr1:158968200-158969400	Active TSS	Colon Smooth Muscle	Colon
4	chr1:158968400-158969200	Active TSS	Adipose Nuclei	Adipose
5	chr1:158968400-158969200	Flanking Active TSS	Liver	Liver
6	chr1:158968400-158969400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
7	chr1:158968400-158969600	Active TSS	Rectal Smooth Muscle	rectum
8	chr1:158968400-158969800	Active TSS	Fetal Kidney	kidney
9	chr1:158968400-158970200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:158968400-158970200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:158968400-158970200	Active TSS	Aorta	Aorta
12	chr1:158968400-158970200	Active TSS	Fetal Muscle Trunk	muscle
13	chr1:158968400-158970200	Active TSS	Psoas Muscle	Psoas
14	chr1:158968400-158970400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:158968400-158970400	Active TSS	Brain Anterior Caudate	brain
16	chr1:158968400-158970600	Active TSS	Brain Angular Gyrus	brain
17	chr1:158968400-158970600	Active TSS	Fetal Lung	lung
18	chr1:158968400-158970800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:158968400-158970800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr1:158968400-158970800	Active TSS	Fetal Brain Female	brain
21	chr1:158968400-158971000	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr1:158968400-158971000	Active TSS	Stomach Smooth Muscle	stomach
23	chr1:158968600-158969200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:158968600-158969200	Active TSS	Fetal Muscle Leg	muscle
25	chr1:158968600-158969400	Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr1:158968600-158969400	Active TSS	Placenta	Placenta
27	chr1:158968600-158969600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:158968600-158969600	Active TSS	Colonic Mucosa	Colon
29	chr1:158968600-158969800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:158968600-158969800	Active TSS	iPS-18 Cell Line	embryonic stem cell
31	chr1:158968600-158969800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:158968600-158969800	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr1:158968600-158969800	Active TSS	NHLF	lung
34	chr1:158968600-158970000	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr1:158968600-158970200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr1:158968600-158970200	Active TSS	H9 Cell Line	embryonic stem cell
37	chr1:158968600-158970200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:158968600-158970200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:158968600-158970200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:158968600-158970200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:158968600-158970200	Active TSS	Brain Substantia Nigra	brain
42	chr1:158968600-158970200	Active TSS	Duodenum Mucosa	Duodenum
43	chr1:158968600-158970200	Active TSS	Fetal Intestine Small	intestine
44	chr1:158968600-158970200	Active TSS	Fetal Thymus	thymus
45	chr1:158968600-158970200	Active TSS	Left Ventricle	heart
46	chr1:158968600-158970200	Active TSS	Placenta Amnion	Placenta Amnion
47	chr1:158968600-158970200	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr1:158968600-158970400	Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr1:158968600-158970400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:158968600-158970400	Active TSS	Brain Hippocampus Middle	brain

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