Variant report

Variant	rs73104936
Chromosome Location	chr1:217312383-217312384
allele	A/C
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	chr1:217311387-217313261	H1-neurons	neurons:	n/a	n/a
2	CTBP2	chr1:217311496-217312676	H1-hESC	embryonic stem cell:	n/a	n/a
3	SUZ12	chr1:217307066-217313271	NT2-D1	testis:	n/a	n/a
4	SUZ12	chr1:217309428-217313094	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:217311416-217312468	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:217308030..217310144-chr1:217311163..217313790,2	MCF-7	breast:
2	chr1:217311976..217314907-chr1:217319601..217322587,2	MCF-7	breast:

Variant related genes	Relation type
ESRRG	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12070441	1.00[AMR][1000 genomes]
rs73103054	1.00[AMR][1000 genomes]
rs73103072	1.00[AMR][1000 genomes]
rs73103075	1.00[AMR][1000 genomes]
rs73103078	1.00[AMR][1000 genomes]
rs73103086	1.00[AMR][1000 genomes]
rs73103102	1.00[AMR][1000 genomes]
rs73104927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73104933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73107043	1.00[AMR][1000 genomes]
rs73107053	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363004	chr1:217312379-217314377	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:217307200-217314200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:217307200-217314200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:217307400-217314200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
4	chr1:217309800-217312600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:217309800-217313800	Bivalent Enhancer	Fetal Brain Male	brain
6	chr1:217310000-217313000	Weak transcription	Right Atrium	heart
7	chr1:217311200-217313000	Weak transcription	Right Ventricle	heart
8	chr1:217311400-217312800	Bivalent Enhancer	Liver	Liver
9	chr1:217311400-217313200	Bivalent Enhancer	Primary hematopoietic stem cells	blood
10	chr1:217311600-217312400	Bivalent Enhancer	Colonic Mucosa	Colon
11	chr1:217311800-217312400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:217311800-217312600	Weak transcription	Pancreas	Pancrea
13	chr1:217311800-217312800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
14	chr1:217311800-217312800	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr1:217311800-217313000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr1:217311800-217313000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:217311800-217313200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr1:217312000-217312400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
19	chr1:217312000-217312400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
20	chr1:217312000-217312600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr1:217312000-217312600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
22	chr1:217312000-217312600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr1:217312000-217312600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr1:217312000-217312600	Bivalent/Poised TSS	NHEK	skin
25	chr1:217312000-217312800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:217312000-217312800	Enhancers	Brain Anterior Caudate	brain
27	chr1:217312000-217312800	Bivalent Enhancer	Fetal Kidney	kidney
28	chr1:217312000-217313000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:217312000-217313200	Bivalent Enhancer	Fetal Intestine Large	intestine
30	chr1:217312000-217313400	Bivalent Enhancer	Fetal Lung	lung
31	chr1:217312000-217313600	Bivalent Enhancer	Adipose Nuclei	Adipose
32	chr1:217312200-217312400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
33	chr1:217312200-217312600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:217312200-217312800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:217312200-217312800	Bivalent Enhancer	Duodenum Mucosa	Duodenum

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