Variant report

Variant	rs73100938
Chromosome Location	chr1:226863757-226863758
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	NFATC1	chr1:226863386-226864336	GM12878	blood:	n/a	n/a
2	YY1	chr1:226863750-226864044	GM12892	blood:	n/a	n/a
3	WRNIP1	chr1:226863666-226864101	GM12878	blood:	n/a	n/a
4	YY1	chr1:226863689-226864137	GM12878	blood:	n/a	n/a
5	NFATC1	chr1:226863585-226864068	GM12878	blood:	n/a	n/a
6	SPI1	chr1:226862512-226863859	HL-60	blood:	n/a	chr1:226863574-226863587 chr1:226862922-226862935
7	RUNX3	chr1:226863646-226864609	GM12878	blood:	n/a	n/a
8	EP300	chr1:226863722-226864475	GM12878	blood:	n/a	n/a
9	IKZF1	chr1:226862530-226863865	GM12878	blood:	n/a	n/a
10	MTA3	chr1:226863492-226864520	GM12878	blood:	n/a	n/a
11	RUNX3	chr1:226863694-226864559	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:226848680..226852398-chr1:226863556..226867477,3	MCF-7	breast:
2	chr1:226858880..226860539-chr1:226862980..226865164,2	K562	blood:
3	chr1:226863575..226866275-chr1:226866512..226868016,2	MCF-7	breast:

Variant related genes	Relation type
ITPKB-IT1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12065094	1.00[AMR][1000 genomes]
rs12095028	0.90[AFR][1000 genomes]
rs4653461	0.93[AFR][1000 genomes]
rs58755194	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73100942	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv997468	chr1:226858660-226975311	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv535316	chr1:226858660-226975311	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226851600-226863800	Weak transcription	NHEK	skin
2	chr1:226851800-226863800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:226851800-226864000	Weak transcription	HMEC	breast
4	chr1:226852200-226864000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:226853000-226864800	Weak transcription	Pancreas	Pancrea
6	chr1:226853200-226864600	Weak transcription	Ovary	ovary
7	chr1:226854000-226864600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:226854800-226864800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:226855200-226864600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:226856200-226864600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:226856200-226864600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:226856200-226867400	Weak transcription	Fetal Brain Female	brain
13	chr1:226856200-226868400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:226859600-226864400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:226859600-226867600	Enhancers	Colon Smooth Muscle	Colon
16	chr1:226860000-226864600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr1:226860200-226867000	Enhancers	Left Ventricle	heart
18	chr1:226860400-226864000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr1:226860400-226864600	Enhancers	Brain Substantia Nigra	brain
20	chr1:226860400-226866200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:226860600-226865200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:226860600-226867600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:226860600-226867600	Weak transcription	Gastric	stomach
24	chr1:226860800-226867400	Weak transcription	Fetal Intestine Large	intestine
25	chr1:226860800-226867400	Weak transcription	Fetal Intestine Small	intestine
26	chr1:226861600-226865600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr1:226861600-226866800	Enhancers	Psoas Muscle	Psoas
28	chr1:226861600-226867400	Enhancers	Fetal Muscle Leg	muscle
29	chr1:226862200-226863800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:226862200-226863800	Flanking Active TSS	Thymus	Thymus
31	chr1:226862200-226864600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr1:226862200-226866800	Enhancers	Lung	lung
33	chr1:226862400-226863800	Enhancers	H9 Cell Line	embryonic stem cell
34	chr1:226862400-226864000	Enhancers	Colonic Mucosa	Colon
35	chr1:226862400-226864200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr1:226862400-226864800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr1:226862400-226865600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr1:226862400-226865600	Flanking Active TSS	GM12878-XiMat	blood
39	chr1:226862400-226865800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:226862400-226866000	Enhancers	NHDF-Ad	bronchial
41	chr1:226862400-226866800	Enhancers	Right Atrium	heart
42	chr1:226862400-226867000	Enhancers	Spleen	Spleen
43	chr1:226862400-226867600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:226862400-226867600	Enhancers	Placenta	Placenta
45	chr1:226862400-226868400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr1:226862600-226864600	Enhancers	Brain Cingulate Gyrus	brain
47	chr1:226862600-226864800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:226862600-226865600	Enhancers	NHLF	lung
49	chr1:226862600-226865800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr1:226862600-226866200	Enhancers	Esophagus	oesophagus

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