Variant report

Variant	rs372006283
Chromosome Location	chr1:76080520-76080521
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:210)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:210 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr1:76080193-76080985	HepG2	liver:	n/a	n/a
2	BACH1	chr1:76080097-76080757	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr1:76080480-76080630	HPAF	blood vessel:	n/a	n/a
4	POLR2A	chr1:76080472-76080563	MCF-7	breast:	n/a	n/a
5	CTCF	chr1:76080445-76080656	Spleen_OC	spleen:	n/a	n/a
6	CTCF	chr1:76080440-76080590	GM12869	blood:	n/a	n/a
7	CTCF	chr1:76080480-76080630	HCT-116	colon:	n/a	n/a
8	CTCF	chr1:76080440-76080590	WI-38	lung:	n/a	n/a
9	CTCF	chr1:76080480-76080630	AG09309	skin:	n/a	n/a
10	RAD21	chr1:76080416-76080660	K562	blood:	n/a	chr1:76080640-76080654
11	MAX	chr1:76080153-76080901	H1-hESC	embryonic stem cell:	n/a	n/a
12	JUND	chr1:76080167-76080618	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr1:76080391-76082524	H1-neurons	neurons:	n/a	n/a
14	CTCF	chr1:76080435-76080681	GM12878	blood:	n/a	n/a
15	CTCF	chr1:76080237-76080790	A549	lung:	n/a	n/a
16	RAD21	chr1:76080466-76080674	K562	blood:	n/a	chr1:76080640-76080654
17	CTCF	chr1:76080460-76080653	GM10266	blood:	n/a	n/a
18	CTCF	chr1:76080430-76080683	K562	blood:	n/a	n/a
19	CTCF	chr1:76080480-76080630	HEK293	kidney:	n/a	n/a
20	CTCF	chr1:76080420-76080721	H1-hESC	embryonic stem cell:	n/a	n/a
21	CTCF	chr1:76080520-76080670	A549	lung:	n/a	n/a
22	TBP	chr1:76080382-76080803	H1-hESC	embryonic stem cell:	n/a	n/a
23	MAZ	chr1:76080448-76080632	HepG2	liver:	n/a	n/a
24	CTCF	chr1:76080480-76080630	HEEpiC	esophagus:	n/a	n/a
25	CTCF	chr1:76080500-76080650	K562	blood:	n/a	n/a
26	CTCF	chr1:76080443-76080724	MCF-7	breast:	n/a	n/a
27	CTCF	chr1:76080406-76080755	GM12878	blood:	n/a	n/a
28	MAX	chr1:76080371-76080550	K562	blood:	n/a	n/a
29	MAX	chr1:76080351-76080805	A549	lung:	n/a	n/a
30	CEBPB	chr1:76080295-76080590	HepG2	liver:	n/a	n/a
31	CTCF	chr1:76080467-76080670	Pancreas_OC	pancreas:	n/a	n/a
32	MAX	chr1:76080235-76080911	A549	lung:	n/a	n/a
33	CTBP2	chr1:76080347-76082590	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr1:76080520-76080670	GM12866	blood:	n/a	n/a
35	CTCF	chr1:76080470-76080664	HUVEC	blood vessel:	n/a	n/a
36	RAD21	chr1:76080143-76080806	H1-hESC	embryonic stem cell:	n/a	chr1:76080640-76080654
37	CTCF	chr1:76080429-76080756	MCF-7	breast:	n/a	n/a
38	GABPA	chr1:76080373-76080914	K562	blood:	n/a	chr1:76080666-76080675
39	MYC	chr1:76080339-76080702	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr1:76080441-76080632	T-47D	breast:	n/a	n/a
41	CTCF	chr1:76080500-76080650	GM12874	blood:	n/a	n/a
42	MAZ	chr1:76080431-76080682	K562	blood:	n/a	n/a
43	MAX	chr1:76080307-76080651	MCF-7	breast:	n/a	n/a
44	MAX	chr1:76080366-76080634	K562	blood:	n/a	n/a
45	MAFF	chr1:76080512-76080544	HepG2	liver:	n/a	n/a
46	CTCF	chr1:76080480-76080630	HMF	breast:	n/a	n/a
47	CTCF	chr1:76080500-76080650	GM12878	blood:	n/a	n/a
48	E2F6	chr1:76080152-76080836	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr1:76080500-76080650	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr1:76080460-76080610	HA-sp	spinal cord:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:76070009..76076148-chr1:76078248..76081967,7	K562	blood:
2	chr1:76071710..76074403-chr1:76079679..76081378,2	K562	blood:
3	chr1:76079907..76082887-chr11:62607623..62609125,2	K562	blood:
4	chr1:76079906..76082887-chr11:62607618..62609123,2	K562	blood:
5	chr1:76080033..76082466-chr1:76250224..76251859,2	MCF-7	breast:
6	chr1:76079591..76081611-chr1:76189875..76191572,2	MCF-7	breast:
7	chr1:76066835..76069254-chr1:76079406..76081859,2	MCF-7	breast:
8	chr1:76079931..76081989-chr1:76083963..76086787,2	K562	blood:

No data

Variant related genes	Relation type
SLC44A5	TF binding region
ENSG00000133316	Chromatin interaction
ENSG00000117054	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv3445096	chr1:75933216-76126980	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv427675	chr1:76070382-76187748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv10284	chr1:76079955-76082780	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76078800-76080600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:76079400-76081400	Active TSS	Fetal Brain Male	brain
3	chr1:76079600-76080600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:76079800-76081200	Active TSS	Fetal Brain Female	brain
5	chr1:76079800-76082200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr1:76079800-76082600	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr1:76080000-76080600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr1:76080000-76080600	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr1:76080000-76081400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr1:76080000-76082000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:76080000-76082200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:76080000-76082400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr1:76080000-76082600	Active TSS	Brain Anterior Caudate	brain
14	chr1:76080000-76082800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
15	chr1:76080000-76082800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:76080200-76080600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:76080200-76080600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr1:76080200-76080600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:76080200-76080600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:76080200-76080600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:76080200-76080600	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
22	chr1:76080200-76080600	Bivalent Enhancer	Adipose Nuclei	Adipose
23	chr1:76080200-76080600	Flanking Active TSS	Brain Angular Gyrus	brain
24	chr1:76080200-76080600	Flanking Active TSS	Brain Cingulate Gyrus	brain
25	chr1:76080200-76080600	Flanking Active TSS	Brain Hippocampus Middle	brain
26	chr1:76080200-76080600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr1:76080200-76080600	Enhancers	Gastric	stomach
28	chr1:76080200-76080600	Flanking Active TSS	HepG2	liver
29	chr1:76080200-76080600	Flanking Active TSS	K562	blood
30	chr1:76080200-76080600	Flanking Bivalent TSS/Enh	NH-A	brain
31	chr1:76080200-76080800	Flanking Bivalent TSS/Enh	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:76080200-76080800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:76080200-76080800	Bivalent Enhancer	Lung	lung
34	chr1:76080200-76081000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr1:76080200-76081000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
36	chr1:76080200-76081000	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
37	chr1:76080200-76081000	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
38	chr1:76080200-76081000	Flanking Active TSS	Pancreas	Pancrea
39	chr1:76080200-76081000	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
40	chr1:76080200-76081000	Flanking Active TSS	Right Ventricle	heart
41	chr1:76080200-76081000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
42	chr1:76080200-76081000	Bivalent Enhancer	Spleen	Spleen
43	chr1:76080200-76081200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr1:76080200-76081200	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
45	chr1:76080200-76081200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
46	chr1:76080200-76081200	Bivalent Enhancer	Placenta	Placenta
47	chr1:76080200-76081400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:76080200-76081400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
49	chr1:76080200-76081400	Bivalent Enhancer	Fetal Thymus	thymus
50	chr1:76080200-76081400	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle

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