Variant report

Variant	rs184213617
Chromosome Location	chr1:85872735-85872736
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	EP300	chr1:85872632-85873370	SK-N-SH	brain:	n/a	chr1:85872787-85872796
2	JUND	chr1:85872681-85873321	SK-N-SH	brain:	n/a	chr1:85873017-85873028
3	POLR2A	chr1:85872687-85873353	HUVEC	blood vessel:	n/a	n/a
4	SP1	chr1:85872709-85873293	A549	lung:	n/a	n/a
5	TCF12	chr1:85872568-85873490	SK-N-SH	brain:	n/a	n/a
6	TCF12	chr1:85872588-85873479	SK-N-SH	brain:	n/a	n/a
7	TEAD4	chr1:85872728-85873364	ECC-1	luminal epithelium:	n/a	n/a
8	PBX3	chr1:85872731-85873289	SK-N-SH	brain:	n/a	chr1:85872992-85873012
9	GATA3	chr1:85872696-85873530	SK-N-SH	brain:	n/a	chr1:85872751-85872761
10	NFIC	chr1:85872613-85873448	SK-N-SH	brain:	n/a	n/a
11	JUND	chr1:85872684-85873398	SK-N-SH	brain:	n/a	chr1:85873017-85873028
12	NFIC	chr1:85872702-85873328	ECC-1	luminal epithelium:	n/a	n/a
13	FOSL1	chr1:85872733-85873225	HCT-116	colon:	n/a	n/a
14	JUND	chr1:85872689-85873443	SK-N-SH	brain:	n/a	chr1:85873017-85873028
15	TCF12	chr1:85872695-85873256	A549	lung:	n/a	n/a
16	TCF12	chr1:85872650-85873293	ECC-1	luminal epithelium:	n/a	n/a
17	FOSL2	chr1:85872705-85873348	A549	lung:	n/a	n/a
18	EP300	chr1:85872641-85873451	ECC-1	luminal epithelium:	n/a	chr1:85873403-85873417 chr1:85872787-85872796
19	JUND	chr1:85872710-85873332	HCT-116	colon:	n/a	chr1:85873017-85873028
20	TEAD4	chr1:85872730-85873384	SK-N-SH	brain:	n/a	n/a
21	NFIC	chr1:85872691-85873420	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
DDAH1	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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3393958	chr1:85857980-85874598	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
5	esv3358969	chr1:85872483-85872937	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85856000-85872800	Weak transcription	Fetal Intestine Small	intestine
2	chr1:85862200-85874600	Weak transcription	Pancreas	Pancrea
3	chr1:85864400-85873000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr1:85864400-85874600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:85864800-85876800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr1:85865400-85872800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:85868600-85872800	Enhancers	Liver	Liver
8	chr1:85869000-85872800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:85869200-85873200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:85869800-85874400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:85870000-85873000	Enhancers	HSMMtube	muscle
12	chr1:85870200-85874800	Enhancers	Osteobl	bone
13	chr1:85870400-85872800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:85870400-85872800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:85870600-85872800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:85870600-85872800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr1:85870800-85872800	Enhancers	NHDF-Ad	bronchial
18	chr1:85871000-85872800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:85871400-85872800	Weak transcription	Brain Substantia Nigra	brain
20	chr1:85871400-85873000	Weak transcription	Brain Anterior Caudate	brain
21	chr1:85871400-85874000	Enhancers	HSMM	muscle
22	chr1:85871400-85878400	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:85871600-85872800	Weak transcription	Aorta	Aorta
24	chr1:85871600-85873200	Weak transcription	Stomach Mucosa	stomach
25	chr1:85871600-85876600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:85871800-85872800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr1:85871800-85872800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:85871800-85872800	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:85871800-85872800	Enhancers	NH-A	brain
30	chr1:85871800-85873000	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:85871800-85873000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:85871800-85873000	Weak transcription	Fetal Stomach	stomach
33	chr1:85871800-85873200	Weak transcription	NHLF	lung
34	chr1:85871800-85873600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:85871800-85877000	Weak transcription	Ovary	ovary
36	chr1:85872000-85877200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:85872200-85873000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr1:85872400-85872800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr1:85872400-85873200	Weak transcription	Fetal Kidney	kidney
40	chr1:85872400-85873600	Flanking Active TSS	HUVEC	blood vessel
41	chr1:85872400-85874000	Enhancers	Fetal Lung	lung
42	chr1:85872600-85872800	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:85872600-85872800	Enhancers	Rectal Smooth Muscle	rectum
44	chr1:85872600-85872800	Enhancers	NHEK	skin
45	chr1:85872600-85873000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr1:85872600-85873200	Active TSS	A549	lung
47	chr1:85872600-85873400	Enhancers	Adipose Nuclei	Adipose
48	chr1:85872600-85873800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr1:85872600-85873800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:85872600-85873800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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