Variant report

Variant	rs73979288
Chromosome Location	chr2:191401369-191401370
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT1	chr2:191401106-191401466	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:191401014-191401395	K562	blood:	n/a	n/a
3	BACH1	chr2:191401241-191401584	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:191400972-191401744	K562	blood:	n/a	n/a
5	MAZ	chr2:191401324-191401459	GM12878	blood:	n/a	n/a
6	MTA3	chr2:191400801-191401594	GM12878	blood:	n/a	n/a
7	RUNX3	chr2:191400943-191401449	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190702622..190704522-chr2:191400412..191402253,2	K562	blood:
2	chr2:191401207..191403475-chr2:191412047..191414173,2	K562	blood:
3	chr2:191173738..191175735-chr2:191400654..191403444,2	K562	blood:
4	chr2:191400232..191401979-chr2:191403177..191404874,2	MCF-7	breast:
5	chr2:191399578..191402391-chr2:191744786..191747033,2	K562	blood:
6	chr2:191401207..191403426-chr2:191411278..191414173,2	K562	blood:

No data

Variant related genes	Relation type
TMEM194B	TF binding region
ENSG00000235852	Chromatin interaction
ENSG00000115419	Chromatin interaction

rs_ID	r²[population]
rs4129213	0.84[AFR][1000 genomes]
rs55684676	0.84[AFR][1000 genomes]
rs56123211	0.84[AFR][1000 genomes]
rs56171560	0.84[AFR][1000 genomes]
rs56218257	0.84[AFR][1000 genomes]
rs56392719	0.84[AFR][1000 genomes]
rs56872342	0.84[AFR][1000 genomes]
rs60268167	0.84[AFR][1000 genomes]
rs73979261	0.83[AFR][1000 genomes]
rs73979266	0.85[AFR][1000 genomes]
rs73979295	0.84[AFR][1000 genomes]
rs73979298	0.84[AFR][1000 genomes]
rs73979299	0.84[AFR][1000 genomes]

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191399600-191401400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:191399800-191402600	Weak transcription	Spleen	Spleen
3	chr2:191400000-191401400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr2:191400000-191402400	Weak transcription	Ovary	ovary
5	chr2:191400000-191402600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:191400000-191402600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:191400000-191402600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:191400000-191402600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:191400000-191402600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:191400000-191402600	Weak transcription	Brain Angular Gyrus	brain
11	chr2:191400000-191402600	Weak transcription	Esophagus	oesophagus
12	chr2:191400000-191402600	Weak transcription	Gastric	stomach
13	chr2:191400000-191402600	Weak transcription	Lung	lung
14	chr2:191400000-191402600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:191400000-191402600	Weak transcription	HSMMtube	muscle
16	chr2:191400200-191401400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:191400200-191401400	Enhancers	Brain Substantia Nigra	brain
18	chr2:191400200-191401600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:191400200-191401600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr2:191400200-191402600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:191400200-191402600	Weak transcription	Psoas Muscle	Psoas
22	chr2:191400400-191401400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr2:191400400-191401400	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr2:191400400-191401400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr2:191400400-191401400	Enhancers	Liver	Liver
26	chr2:191400400-191401800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr2:191400400-191402600	Weak transcription	Aorta	Aorta
28	chr2:191400400-191402600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:191400600-191401400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr2:191400600-191401400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr2:191400600-191401400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:191400600-191401400	Enhancers	Fetal Thymus	thymus
33	chr2:191400600-191401400	Enhancers	HepG2	liver
34	chr2:191400600-191402000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:191400600-191402400	Weak transcription	Adipose Nuclei	Adipose
36	chr2:191400600-191402400	Weak transcription	NHDF-Ad	bronchial
37	chr2:191400600-191402600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:191400600-191402600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr2:191400600-191402600	Weak transcription	Colonic Mucosa	Colon
40	chr2:191400600-191402600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:191400600-191402600	Weak transcription	Fetal Brain Male	brain
42	chr2:191400600-191402600	Weak transcription	Fetal Kidney	kidney
43	chr2:191400600-191402600	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr2:191400600-191402600	Weak transcription	Right Atrium	heart
45	chr2:191400600-191402600	Weak transcription	Right Ventricle	heart
46	chr2:191400600-191402600	Weak transcription	Thymus	Thymus
47	chr2:191400600-191403000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:191400600-191404600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:191400800-191401400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr2:191400800-191401400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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