Variant report

Variant	rs73072552
Chromosome Location	chr1:212211789-212211790
allele	A/G
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	chr1:212211291-212211793	MCF10A-Er-Src	breast:	n/a	n/a
2	MYC	chr1:212211166-212211815	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212207393..212212126-chr1:212456103..212460187,5	K562	blood:

Variant related genes	Relation type
INTS7	TF binding region
ENSG00000066027	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17018330	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17018414	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34836942	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58729268	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60848591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60875991	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73089282	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73089287	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73091053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091065	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091075	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73091210	1.00[EUR][1000 genomes]
rs7517502	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212209200-212212000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:212209400-212217800	Weak transcription	Small Intestine	intestine
3	chr1:212209600-212226600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:212209600-212253000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:212209800-212214000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:212210200-212212000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:212210200-212213800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr1:212210200-212214000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:212210400-212214000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr1:212210400-212214000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:212210400-212214000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:212210400-212223600	Weak transcription	HSMM	muscle
13	chr1:212210400-212227400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:212210400-212228800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:212210400-212228800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:212210400-212228800	Weak transcription	Fetal Intestine Large	intestine
17	chr1:212210600-212211800	Enhancers	Primary hematopoietic stem cells	blood
18	chr1:212210600-212212400	Transcr. at gene 5' and 3'	K562	blood
19	chr1:212210600-212213800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:212210600-212213800	Weak transcription	Primary T cells from cord blood	blood
21	chr1:212210600-212214000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr1:212210600-212214000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:212210600-212214600	Transcr. at gene 5' and 3'	Dnd41	blood
24	chr1:212210600-212215600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:212210600-212227400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:212210600-212229200	Weak transcription	Fetal Brain Female	brain
27	chr1:212210800-212211800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:212210800-212211800	Weak transcription	Fetal Kidney	kidney
29	chr1:212210800-212212000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
30	chr1:212210800-212212000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:212210800-212212000	Active TSS	Brain Germinal Matrix	brain
32	chr1:212210800-212213800	Weak transcription	Thymus	Thymus
33	chr1:212210800-212214000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr1:212210800-212214000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:212210800-212216800	Weak transcription	Fetal Intestine Small	intestine
36	chr1:212210800-212217400	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:212210800-212220800	Weak transcription	Fetal Stomach	stomach
38	chr1:212210800-212241200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr1:212211000-212211800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:212211000-212211800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:212211000-212212000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:212211000-212212000	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
43	chr1:212211000-212212000	Genic enhancers	HMEC	breast
44	chr1:212211000-212212200	Transcr. at gene 5' and 3'	A549	lung
45	chr1:212211000-212213800	Weak transcription	NH-A	brain
46	chr1:212211000-212218200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:212211000-212227200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr1:212211200-212211800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr1:212211200-212212000	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:212211200-212212000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell

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