Variant report

Variant	rs73038915
Chromosome Location	chr1:175177993-175177994
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	NFIC	chr1:175177984-175179161	GM12878	blood:	n/a	chr1:175178498-175178514
2	IKZF1	chr1:175177905-175179138	GM12878	blood:	n/a	n/a
3	RUNX3	chr1:175177908-175179103	GM12878	blood:	n/a	n/a
4	MTA3	chr1:175177978-175179142	GM12878	blood:	n/a	n/a
5	ESRRA	chr1:175177666-175179525	GM12878	blood:	n/a	n/a
6	RELA	chr1:175177955-175179065	GM19099	blood:	n/a	n/a
7	POLR2A	chr1:175177984-175179087	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:175174804..175177304-chr1:175177311..175180310,2	MCF-7	breast:
2	chr1:175176357..175178911-chr1:175186039..175187821,2	MCF-7	breast:
3	chr1:175160036..175162076-chr1:175177766..175180025,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230687	TF binding region
ENSG00000235750	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10912954	1.00[AMR][1000 genomes]
rs11484650	1.00[AMR][1000 genomes]
rs12059472	1.00[AMR][1000 genomes]
rs12062749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069951	1.00[AMR][1000 genomes]
rs12071778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370405	1.00[AMR][1000 genomes]
rs28455094	1.00[AMR][1000 genomes]
rs60033655	1.00[AMR][1000 genomes]
rs73041898	1.00[AMR][1000 genomes]
rs73046101	1.00[AMR][1000 genomes]
rs73047918	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	nsv949473	chr1:175151666-175391741	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175162600-175178000	Weak transcription	Psoas Muscle	Psoas
2	chr1:175174000-175178000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:175174000-175178000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:175174000-175178000	Weak transcription	Spleen	Spleen
5	chr1:175174000-175178400	Weak transcription	Right Atrium	heart
6	chr1:175174200-175178000	Weak transcription	Fetal Muscle Leg	muscle
7	chr1:175174800-175178000	Enhancers	Primary T helper cells PMA-I stimulated	--
8	chr1:175175000-175178000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:175175400-175178000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:175175600-175178000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr1:175175600-175178000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:175175800-175178000	Weak transcription	HUVEC	blood vessel
13	chr1:175175800-175178400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr1:175175800-175180000	Enhancers	Primary hematopoietic stem cells	blood
15	chr1:175175800-175180200	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:175176000-175178000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:175176200-175178000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr1:175176400-175178000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr1:175176400-175178000	Weak transcription	NHEK	skin
20	chr1:175177000-175178000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr1:175177000-175178000	Enhancers	Fetal Thymus	thymus
22	chr1:175177200-175178000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:175177200-175178600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr1:175177400-175180000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:175177600-175178000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr1:175177600-175178200	Enhancers	Liver	Liver
27	chr1:175177600-175178800	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:175177600-175178800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:175177800-175178000	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr1:175177800-175178000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr1:175177800-175178200	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:175177800-175178200	Flanking Active TSS	Thymus	Thymus
33	chr1:175177800-175178200	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr1:175177800-175178400	Flanking Active TSS	Duodenum Mucosa	Duodenum
35	chr1:175177800-175178600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:175177800-175178600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:175177800-175178600	Enhancers	HMEC	breast
38	chr1:175177800-175178800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:175177800-175179000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr1:175177800-175179000	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr1:175177800-175179000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr1:175177800-175179000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:175177800-175179200	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr1:175177800-175179200	Flanking Active TSS	GM12878-XiMat	blood
45	chr1:175177800-175179400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr1:175177800-175179600	Flanking Active TSS	Dnd41	blood

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