Variant report

Variant	rs74351145
Chromosome Location	chr1:57890060-57890061
allele	A/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	CTCF	chr1:57889940-57890090	AG04449	skin:	n/a	n/a
2	MAX	chr1:57890010-57890728	H1-hESC	embryonic stem cell:	n/a	chr1:57890091-57890101 chr1:57890353-57890362
3	MAX	chr1:57890040-57890799	H1-hESC	embryonic stem cell:	n/a	chr1:57890091-57890101 chr1:57890353-57890362
4	POLR2A	chr1:57887588-57890834	PFSK-1	brain:	n/a	n/a
5	SIN3A	chr1:57890047-57890737	H1-hESC	embryonic stem cell:	n/a	chr1:57890384-57890395
6	POLR2A	chr1:57889311-57890582	H1-neurons	neurons:	n/a	n/a
7	RAD21	chr1:57889948-57890657	IMR90	lung:	n/a	chr1:57890366-57890385
8	MAZ	chr1:57890034-57890834	IMR90	lung:	n/a	chr1:57890091-57890101 chr1:57890353-57890362
9	REST	chr1:57889669-57890640	H1-neurons	neurons:	n/a	chr1:57889708-57889721 chr1:57890217-57890230
10	CTBP2	chr1:57889876-57890784	H1-hESC	embryonic stem cell:	n/a	n/a
11	RAD21	chr1:57889832-57890828	H1-hESC	embryonic stem cell:	n/a	chr1:57890366-57890385
12	POLR2A	chr1:57887817-57890541	H1-neurons	neurons:	n/a	n/a
13	BACH1	chr1:57889947-57890545	H1-hESC	embryonic stem cell:	n/a	n/a
14	SMC3	chr1:57887672-57890985	SK-N-SH	brain:	n/a	chr1:57890368-57890378 chr1:57889163-57889170 chr1:57888587-57888601 chr1:57890367-57890381 chr1:57890321-57890329
15	CTCF	chr1:57890020-57890170	HA-sp	spinal cord:	n/a	n/a
16	RAD21	chr1:57890010-57890704	H1-hESC	embryonic stem cell:	n/a	chr1:57890366-57890385
17	RAD21	chr1:57889871-57890624	SK-N-SH_RA	brain:	n/a	chr1:57890366-57890385
18	CTCF	chr1:57890025-57890174	Fibrobl	skin:	n/a	n/a
19	CTCF	chr1:57890054-57890569	IMR90	lung:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
20	CHD1	chr1:57890019-57890403	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr1:57889863-57891109	SK-N-SH	brain:	n/a	n/a
22	CTCF	chr1:57889497-57890769	SK-N-SH	brain:	n/a	chr1:57889664-57889677 chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
23	E2F6	chr1:57889902-57890928	H1-hESC	embryonic stem cell:	n/a	n/a
24	RAD21	chr1:57889875-57890934	SK-N-SH	brain:	n/a	chr1:57890366-57890385

Variant related genes	Relation type
DAB1	TF binding region

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	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv19188	chr1:57887539-57890289	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	esv3379485	chr1:57888389-57891237	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57885800-57890800	Active TSS	Fetal Brain Female	brain
2	chr1:57886800-57890800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:57887000-57890400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:57887200-57890200	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr1:57887200-57890600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:57887200-57890600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:57887200-57890600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
8	chr1:57887200-57890800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr1:57887400-57890200	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr1:57887400-57890200	Bivalent/Poised TSS	HSMM	muscle
11	chr1:57887400-57890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:57887400-57890600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:57887400-57890600	Active TSS	Right Atrium	heart
14	chr1:57887400-57890800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:57887600-57890200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:57887600-57890600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:57887600-57890600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:57887600-57890800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:57887600-57890800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:57887600-57891600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:57887800-57890200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:57887800-57890200	Bivalent/Poised TSS	Psoas Muscle	Psoas
23	chr1:57887800-57890400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr1:57887800-57890600	Bivalent/Poised TSS	NH-A	brain
25	chr1:57887800-57890800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:57887800-57890800	Bivalent/Poised TSS	NHLF	lung
27	chr1:57888000-57890200	Bivalent/Poised TSS	Ovary	ovary
28	chr1:57888000-57890600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:57888000-57890600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:57888000-57890600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
31	chr1:57888200-57890600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
32	chr1:57888400-57890200	Active TSS	Fetal Brain Male	brain
33	chr1:57888400-57890600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
34	chr1:57888400-57890600	Active TSS	Fetal Heart	heart
35	chr1:57888400-57891000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
36	chr1:57888600-57890800	Active TSS	Brain Angular Gyrus	brain
37	chr1:57888600-57890800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
38	chr1:57888800-57890200	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr1:57888800-57890200	Active TSS	Left Ventricle	heart
40	chr1:57888800-57890200	Bivalent/Poised TSS	HepG2	liver
41	chr1:57888800-57890600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
42	chr1:57888800-57890800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:57888800-57890800	Active TSS	Stomach Smooth Muscle	stomach
44	chr1:57889000-57890200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:57889000-57890600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
46	chr1:57889000-57890800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
47	chr1:57889200-57890600	Bivalent/Poised TSS	Colonic Mucosa	Colon
48	chr1:57889200-57890600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
49	chr1:57889200-57890800	Bivalent/Poised TSS	A549	lung
50	chr1:57889400-57890200	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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