Variant report

Variant	rs6688979
Chromosome Location	chr1:214462138-214462139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:214461559..214464965-chr1:214465950..214468310,3	K562	blood:
2	chr1:214460531..214463477-chr1:214488827..214490849,2	MCF-7	breast:
3	chr1:214461471..214463452-chr1:214488205..214490327,2	K562	blood:
4	chr1:214453247..214457294-chr1:214460008..214465638,7	MCF-7	breast:
5	chr1:214457192..214459073-chr1:214461952..214463618,2	K562	blood:

Variant related genes	Relation type
ENSG00000143499	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2047446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35874989	0.86[ASN][1000 genomes]
rs6540814	1.00[CHB][hapmap]
rs6679707	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6682161	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6683913	1.00[JPT][hapmap]
rs6684852	1.00[CHB][hapmap]
rs7519743	0.84[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7522244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538203	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7552475	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs9308433	1.00[CHB][hapmap];0.86[ASN][1000 genomes]

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214455400-214463200	Weak transcription	Lung	lung
2	chr1:214455600-214487800	Weak transcription	Primary B cells from cord blood	blood
3	chr1:214455600-214489000	Weak transcription	Ovary	ovary
4	chr1:214455800-214463200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:214456000-214469200	Weak transcription	NH-A	brain
6	chr1:214456200-214462400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:214456200-214463000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:214456200-214463800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:214456200-214469800	Weak transcription	Fetal Lung	lung
10	chr1:214456400-214463000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:214456400-214463000	Weak transcription	Psoas Muscle	Psoas
12	chr1:214456400-214463000	Weak transcription	Right Atrium	heart
13	chr1:214456400-214468800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:214456400-214470000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:214456400-214491800	Weak transcription	Pancreas	Pancrea
16	chr1:214456600-214463000	Weak transcription	Fetal Muscle Leg	muscle
17	chr1:214456600-214463000	Weak transcription	Left Ventricle	heart
18	chr1:214456600-214467800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:214456600-214483200	Weak transcription	Primary B cells from peripheral blood	blood
20	chr1:214456800-214463000	Weak transcription	Spleen	Spleen
21	chr1:214456800-214465000	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:214456800-214465400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:214456800-214468800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:214456800-214470000	Weak transcription	HMEC	breast
25	chr1:214457200-214463000	Weak transcription	Right Ventricle	heart
26	chr1:214457200-214478200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr1:214458600-214470000	Weak transcription	A549	lung
28	chr1:214458800-214462800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:214458800-214463200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:214459200-214463000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:214459200-214468200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:214459200-214469400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:214459200-214483000	Weak transcription	Liver	Liver
34	chr1:214459200-214491400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:214459400-214464400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr1:214459600-214462200	Weak transcription	Fetal Intestine Small	intestine
37	chr1:214459600-214462600	Weak transcription	Fetal Intestine Large	intestine
38	chr1:214459600-214463200	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:214459600-214468800	Weak transcription	GM12878-XiMat	blood
40	chr1:214459800-214467800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:214460800-214462400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr1:214461200-214462800	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:214461400-214462600	Strong transcription	Dnd41	blood
44	chr1:214461400-214462800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr1:214461400-214463000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:214461400-214465600	Enhancers	Fetal Heart	heart
47	chr1:214461400-214475800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:214461600-214462800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr1:214461600-214462800	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:214461600-214463600	Genic enhancers	HepG2	liver

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