Variant report

Variant	rs6683
Chromosome Location	chr6:127610021-127610022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:127608699..127610786-chr6:127657658..127660548,2	K562	blood:
2	chr6:127591724..127593793-chr6:127607677..127610400,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11154395	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11154396	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11154397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11154398	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11556354	0.81[CEU][hapmap]
rs11961994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12199451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12210968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12212752	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12215298	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12529077	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13192350	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13215850	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2057224	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2875981	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs3756993	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3798859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4502958	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933893	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7775667	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6683	ECHDC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127589800-127612000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:127597400-127611600	Weak transcription	Stomach Mucosa	stomach
3	chr6:127600400-127618000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:127601000-127619000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:127601200-127611400	Strong transcription	HUES64 Cell Line	embryonic stem cell
6	chr6:127601200-127618000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:127601400-127610800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:127601400-127610800	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:127601400-127610800	Strong transcription	Primary hematopoietic stem cells	blood
10	chr6:127601400-127611400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:127601400-127611400	Strong transcription	Placenta	Placenta
12	chr6:127601400-127612600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr6:127601600-127611000	Strong transcription	Primary B cells from peripheral blood	blood
14	chr6:127601600-127611600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:127601600-127621800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr6:127601800-127610600	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr6:127601800-127611200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:127601800-127611600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:127601800-127612200	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr6:127602200-127612200	Strong transcription	HSMM	muscle
21	chr6:127602400-127611200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr6:127602600-127611000	Strong transcription	Fetal Lung	lung
23	chr6:127602600-127612000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr6:127602600-127612200	Strong transcription	Primary B cells from cord blood	blood
25	chr6:127604000-127618400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr6:127605000-127660800	Weak transcription	Hela-S3	cervix
27	chr6:127606200-127612000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:127606400-127612400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:127606600-127612600	Strong transcription	Dnd41	blood
30	chr6:127606800-127610400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr6:127606800-127610400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr6:127606800-127610600	Strong transcription	HepG2	liver
33	chr6:127606800-127610800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:127606800-127611200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr6:127607000-127611600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr6:127607200-127610600	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr6:127607200-127611200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:127607200-127611400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr6:127607200-127611400	Strong transcription	HUVEC	blood vessel
40	chr6:127607200-127612000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:127607200-127612400	Strong transcription	Fetal Thymus	thymus
42	chr6:127608200-127610400	Genic enhancers	Liver	Liver
43	chr6:127608600-127612000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr6:127608600-127612400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr6:127608600-127625000	Weak transcription	Colonic Mucosa	Colon
46	chr6:127608800-127610200	Weak transcription	A549	lung
47	chr6:127608800-127610800	Weak transcription	NHEK	skin
48	chr6:127608800-127611600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr6:127608800-127611600	Weak transcription	Colon Smooth Muscle	Colon
50	chr6:127608800-127611800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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