Variant report

Variant	rs6685421
Chromosome Location	chr1:175189524-175189525
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175160945..175164474-chr1:175187377..175192795,5	MCF-7	breast:
2	chr1:175189235..175191579-chr1:175235829..175237963,2	MCF-7	breast:
3	chr1:175188429..175190371-chr1:175290135..175292302,2	MCF-7	breast:
4	chr1:175185788..175188224-chr1:175189166..175191897,3	MCF-7	breast:
5	chr1:174997750..174999766-chr1:175188869..175190673,2	MCF-7	breast:
6	chr1:175189509..175191098-chr1:175285626..175287335,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235750	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12066900	1.00[EUR][1000 genomes]
rs12074601	1.00[EUR][1000 genomes]
rs2157566	1.00[EUR][1000 genomes]
rs2861278	1.00[EUR][1000 genomes]
rs4650736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650737	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4650738	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4651393	1.00[EUR][1000 genomes]
rs4651397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4651401	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4651403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4651442	1.00[EUR][1000 genomes]
rs60264525	1.00[EUR][1000 genomes]
rs60781969	1.00[EUR][1000 genomes]
rs61553406	1.00[EUR][1000 genomes]
rs73032419	1.00[EUR][1000 genomes]
rs73032430	1.00[EUR][1000 genomes]
rs73032442	1.00[EUR][1000 genomes]
rs73032445	1.00[EUR][1000 genomes]
rs73034615	1.00[EUR][1000 genomes]
rs73036233	1.00[EUR][1000 genomes]
rs73036254	1.00[EUR][1000 genomes]
rs73038926	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038929	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73038947	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73046091	1.00[EUR][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175178400-175191400	Weak transcription	Spleen	Spleen
2	chr1:175184200-175190400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:175185400-175190000	Weak transcription	Fetal Lung	lung
4	chr1:175186200-175189600	Enhancers	Primary B cells from peripheral blood	blood
5	chr1:175186200-175191600	Enhancers	Fetal Intestine Large	intestine
6	chr1:175186400-175189800	Enhancers	Primary B cells from cord blood	blood
7	chr1:175186400-175191600	Enhancers	Fetal Intestine Small	intestine
8	chr1:175186400-175192000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr1:175186600-175191800	Enhancers	Adipose Nuclei	Adipose
10	chr1:175187000-175192000	Enhancers	Fetal Muscle Leg	muscle
11	chr1:175187600-175190000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:175187600-175190000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:175187800-175190000	Enhancers	NHEK	skin
14	chr1:175187800-175190400	Enhancers	HMEC	breast
15	chr1:175187800-175192200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:175187800-175192400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:175188000-175190000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:175188000-175192600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:175188200-175189600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:175188200-175195000	Enhancers	Placenta	Placenta
21	chr1:175188400-175190000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:175188400-175190000	Weak transcription	Right Atrium	heart
23	chr1:175188400-175190200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:175188400-175190400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:175188400-175190600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr1:175188600-175190000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:175188600-175190000	Weak transcription	Psoas Muscle	Psoas
28	chr1:175188800-175189600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:175188800-175189800	Weak transcription	Left Ventricle	heart
30	chr1:175188800-175191600	Weak transcription	Lung	lung
31	chr1:175188800-175194200	Weak transcription	GM12878-XiMat	blood
32	chr1:175189000-175189600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr1:175189000-175190200	Weak transcription	Fetal Kidney	kidney
34	chr1:175189200-175190400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:175189200-175190800	Weak transcription	K562	blood
36	chr1:175189400-175189600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr1:175189400-175190400	Weak transcription	HUVEC	blood vessel
38	chr1:175189400-175192000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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