Variant report

Variant	rs17141194
Chromosome Location	chr6:5729030-5729031
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	chr6:5728615..5730651-chr6:5733812..5736402,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17141110	1.00[CHB][hapmap]
rs34956677	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62408100	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62408102	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6919611	0.83[YRI][hapmap]
rs6924018	0.81[CEU][hapmap]
rs6933902	0.83[YRI][hapmap]
rs71557579	0.92[EUR][1000 genomes]
rs7747282	0.88[CEU][hapmap];1.00[CHB][hapmap]
rs9405868	0.94[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522675	chr6:5726231-5732820	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
2	nsv523810	chr6:5727250-5732797	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
3	nsv522836	chr6:5727250-5737122	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv969346	chr6:5728002-5734633	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv823408	chr6:5728468-5729860	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5717600-5729600	Weak transcription	Brain Substantia Nigra	brain
2	chr6:5718000-5729200	Weak transcription	NHEK	skin
3	chr6:5723000-5744200	Weak transcription	Right Ventricle	heart
4	chr6:5724200-5729200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:5724600-5729200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr6:5724600-5729200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:5724600-5729200	Weak transcription	NH-A	brain
8	chr6:5724800-5729200	Weak transcription	Osteobl	bone
9	chr6:5724800-5729400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:5725000-5729800	Enhancers	Primary B cells from cord blood	blood
11	chr6:5725000-5730000	Enhancers	Primary B cells from peripheral blood	blood
12	chr6:5725000-5731600	Weak transcription	Colonic Mucosa	Colon
13	chr6:5725000-5737000	Weak transcription	Primary T cells from cord blood	blood
14	chr6:5725200-5749200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:5726000-5749400	Weak transcription	Fetal Intestine Small	intestine
16	chr6:5727000-5729200	Enhancers	HSMM	muscle
17	chr6:5727000-5762400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr6:5727200-5729800	Enhancers	Fetal Muscle Leg	muscle
19	chr6:5727200-5731400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:5727600-5729200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr6:5727800-5729600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr6:5728000-5729200	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr6:5728000-5729400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:5728000-5729800	Enhancers	Fetal Brain Male	brain
25	chr6:5728000-5730200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr6:5728000-5730200	Enhancers	Fetal Brain Female	brain
27	chr6:5728000-5730800	Enhancers	Brain Germinal Matrix	brain
28	chr6:5728200-5729200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr6:5728200-5729400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr6:5728200-5730400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:5728400-5731400	Weak transcription	Fetal Thymus	thymus
32	chr6:5728600-5731400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr6:5728800-5729400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr6:5728800-5729400	Flanking Active TSS	GM12878-XiMat	blood
35	chr6:5728800-5729600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:5728800-5729800	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr6:5728800-5729800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:5728800-5729800	Enhancers	HMEC	breast
39	chr6:5729000-5729200	Enhancers	Fetal Stomach	stomach
40	chr6:5729000-5729600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr6:5729000-5729600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:5729000-5729600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:5729000-5729600	Enhancers	Esophagus	oesophagus
44	chr6:5729000-5729600	Enhancers	Spleen	Spleen
45	chr6:5729000-5729800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr6:5729000-5729800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr6:5729000-5729800	Enhancers	Left Ventricle	heart
48	chr6:5729000-5729800	Enhancers	Lung	lung
49	chr6:5729000-5730000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:5729000-5730000	Enhancers	HUVEC	blood vessel

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