Variant report

Variant	rs530812638
Chromosome Location	chr1:166135710-166135711
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	EGR1	chr1:166135553-166135800	GM12878	blood:	n/a	chr1:166135688-166135702 chr1:166135743-166135753 chr1:166135690-166135700 chr1:166135699-166135712 chr1:166135684-166135706 chr1:166135698-166135713 chr1:166135689-166135702 chr1:166135690-166135701 chr1:166135689-166135702 chr1:166135689-166135702 chr1:166135699-166135712 chr1:166135690-166135701 chr1:166135690-166135699 chr1:166135686-166135700 chr1:166135690-166135700 chr1:166135689-166135702
2	MAX	chr1:166135665-166136629	K562	blood:	n/a	chr1:166136334-166136343 chr1:166136335-166136342 chr1:166136336-166136345 chr1:166135699-166135709 chr1:166136269-166136279 chr1:166135744-166135754 chr1:166135691-166135700
3	POLR2A	chr1:166135446-166136699	GM18951	blood:	n/a	n/a
4	POLR2A	chr1:166134906-166136215	H1-neurons	neurons:	n/a	n/a
5	E2F6	chr1:166135566-166136593	K562	blood:	n/a	chr1:166136086-166136096 chr1:166135698-166135707 chr1:166136147-166136157
6	EGR1	chr1:166135551-166135784	GM12878	blood:	n/a	chr1:166135688-166135702 chr1:166135743-166135753 chr1:166135690-166135700 chr1:166135699-166135712 chr1:166135684-166135706 chr1:166135698-166135713 chr1:166135689-166135702 chr1:166135690-166135701 chr1:166135689-166135702 chr1:166135689-166135702 chr1:166135699-166135712 chr1:166135690-166135701 chr1:166135690-166135699 chr1:166135686-166135700 chr1:166135690-166135700 chr1:166135689-166135702
7	CTBP2	chr1:166134242-166136250	H1-hESC	embryonic stem cell:	n/a	n/a
8	EGR1	chr1:166135522-166135821	K562	blood:	n/a	chr1:166135688-166135702 chr1:166135743-166135753 chr1:166135690-166135700 chr1:166135699-166135712 chr1:166135684-166135706 chr1:166135698-166135713 chr1:166135689-166135702 chr1:166135690-166135701 chr1:166135689-166135702 chr1:166135689-166135702 chr1:166135699-166135712 chr1:166135690-166135701 chr1:166135690-166135699 chr1:166135686-166135700 chr1:166135690-166135700 chr1:166135689-166135702
9	ZBTB7A	chr1:166135537-166135738	K562	blood:	n/a	n/a
10	EGR1	chr1:166135509-166135837	H1-hESC	embryonic stem cell:	n/a	chr1:166135688-166135702 chr1:166135743-166135753 chr1:166135690-166135700 chr1:166135699-166135712 chr1:166135684-166135706 chr1:166135698-166135713 chr1:166135689-166135702 chr1:166135690-166135701 chr1:166135689-166135702 chr1:166135689-166135702 chr1:166135699-166135712 chr1:166135690-166135701 chr1:166135690-166135699 chr1:166135686-166135700 chr1:166135690-166135700 chr1:166135689-166135702
11	PAX5	chr1:166135497-166136246	GM12892	blood:	n/a	n/a
12	ZNF143	chr1:166135379-166137147	GM12878	blood:	n/a	chr1:166135776-166135786 chr1:166135769-166135779 chr1:166136260-166136278 chr1:166136119-166136137
13	ZBTB7A	chr1:166135634-166135918	ECC-1	luminal epithelium:	n/a	n/a
14	SUZ12	chr1:166133824-166136040	NT2-D1	testis:	n/a	n/a
15	EGR1	chr1:166135536-166135837	K562	blood:	n/a	chr1:166135688-166135702 chr1:166135743-166135753 chr1:166135690-166135700 chr1:166135699-166135712 chr1:166135684-166135706 chr1:166135698-166135713 chr1:166135689-166135702 chr1:166135690-166135701 chr1:166135689-166135702 chr1:166135689-166135702 chr1:166135699-166135712 chr1:166135690-166135701 chr1:166135690-166135699 chr1:166135686-166135700 chr1:166135690-166135700 chr1:166135689-166135702
16	HMGN3	chr1:166135588-166136430	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:54411116..54412005-chr1:166135690..166136342,2	HCT-116	colon:

Variant related genes	Relation type
ENSG00000230898	TF binding region
FAM78B	TF binding region
ENSG00000116212	Chromatin interaction
ENSG00000081870	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3332610	chr1:166111288-166282689	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	esv3356306	chr1:166134753-166137301	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	esv3380611	chr1:166135003-166137251	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3328889	chr1:166135153-166137701	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166133800-166136200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:166133800-166136600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr1:166134000-166136600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
5	chr1:166134000-166136600	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr1:166134000-166136600	Active TSS	Brain Angular Gyrus	brain
7	chr1:166134000-166136600	Active TSS	Brain Anterior Caudate	brain
8	chr1:166134000-166136600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:166134000-166137000	Active TSS	Psoas Muscle	Psoas
10	chr1:166134200-166137000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:166134400-166135800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr1:166134400-166135800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
13	chr1:166134400-166136600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr1:166134400-166136800	Active TSS	Aorta	Aorta
15	chr1:166134400-166136800	Active TSS	Colon Smooth Muscle	Colon
16	chr1:166134400-166137000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:166134400-166137000	Active TSS	Left Ventricle	heart
18	chr1:166134600-166135800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
19	chr1:166134600-166135800	Flanking Active TSS	Right Ventricle	heart
20	chr1:166135000-166136800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr1:166135200-166136200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:166135200-166136600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
23	chr1:166135200-166136600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr1:166135200-166136600	Bivalent/Poised TSS	HepG2	liver
25	chr1:166135200-166136600	Bivalent/Poised TSS	NHLF	lung
26	chr1:166135200-166136800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:166135200-166136800	Bivalent/Poised TSS	Thymus	Thymus
28	chr1:166135400-166135800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
29	chr1:166135400-166135800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr1:166135400-166136200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:166135400-166136400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:166135400-166136400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:166135400-166136400	Active TSS	Primary T helper cells fromperipheralblood	blood
34	chr1:166135400-166136400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
35	chr1:166135400-166136400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:166135400-166136400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr1:166135400-166136400	Active TSS	Duodenum Mucosa	Duodenum
38	chr1:166135400-166136400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
39	chr1:166135400-166136600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
40	chr1:166135400-166136600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr1:166135400-166136600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr1:166135400-166136600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:166135400-166136600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr1:166135400-166136600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:166135400-166136600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
46	chr1:166135400-166136600	Active TSS	Brain Hippocampus Middle	brain
47	chr1:166135400-166136600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr1:166135400-166136600	Active TSS	Brain Substantia Nigra	brain
49	chr1:166135400-166136600	Active TSS	Fetal Brain Female	brain
50	chr1:166135400-166136600	Active TSS	Rectal Mucosa Donor 31	rectum

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