Variant report

Variant	rs1978998
Chromosome Location	chr10:49590756-49590757
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:49589540..49591381-chr10:49641567..49643143,2	K562	blood:
2	chr10:49584975..49587441-chr10:49590002..49593282,3	K562	blood:
3	chr10:49584866..49587796-chr10:49589937..49592814,2	MCF-7	breast:
4	chr10:49584988..49587799-chr10:49588143..49591502,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10735224	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10735225	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10776599	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10776605	1.00[CEU][hapmap]
rs10857569	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10857570	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11101337	1.00[CEU][hapmap]
rs1550774	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1814473	1.00[CEU][hapmap]
rs1867575	1.00[CEU][hapmap]
rs1881739	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1919705	1.00[CEU][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2463956	0.83[AFR][1000 genomes]
rs2590379	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2590380	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2590387	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2590388	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2590390	0.93[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2698760	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2698765	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2698769	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3730154	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3867450	1.00[CEU][hapmap]
rs4012795	1.00[CEU][hapmap]
rs4012801	1.00[CEU][hapmap]
rs4141840	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58181014	0.85[AFR][1000 genomes]
rs7085678	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73293198	0.90[AFR][1000 genomes]
rs74130259	1.00[EUR][1000 genomes]
rs74130281	1.00[EUR][1000 genomes]
rs754368	1.00[EUR][1000 genomes]
rs7894863	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs935275	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv3421111	chr10:49590046-49592144	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49573600-49591200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:49585200-49591200	Weak transcription	Fetal Heart	heart
3	chr10:49586200-49591200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:49586400-49592400	Weak transcription	Fetal Kidney	kidney
5	chr10:49586400-49592600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr10:49587600-49599600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:49589200-49591200	Weak transcription	K562	blood
8	chr10:49589600-49591200	Weak transcription	HSMM	muscle
9	chr10:49589600-49592000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr10:49590200-49591200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:49590200-49591600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr10:49590200-49591600	Weak transcription	Fetal Muscle Leg	muscle
13	chr10:49590200-49592000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:49590200-49592000	Weak transcription	Ovary	ovary
15	chr10:49590200-49592600	Weak transcription	Primary hematopoietic stem cells	blood
16	chr10:49590200-49592600	Weak transcription	Fetal Lung	lung
17	chr10:49590200-49592800	Weak transcription	HSMMtube	muscle
18	chr10:49590200-49596400	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr10:49590200-49596800	Weak transcription	Left Ventricle	heart
20	chr10:49590200-49598400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:49590200-49598800	Weak transcription	A549	lung
22	chr10:49590200-49599600	Weak transcription	Pancreas	Pancrea
23	chr10:49590400-49591200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr10:49590400-49591200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:49590400-49598600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr10:49590400-49599000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr10:49590600-49591800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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